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Disease on EC 4.1.1.90 - peptidyl-glutamate 4-carboxylase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
6-pyruvoyltetrahydropterin synthase deficiency
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Acidosis
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
Holocarboxylase synthetase deficiency: report of one case.
In vitro metabolic and respiratory acidosis selectively inhibit osteoblastic matrix gene expression.
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
Acidosis, Lactic
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis.
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Magnetic resonance imaging in lactic acidosis.
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
Acidosis, Respiratory
In vitro metabolic and respiratory acidosis selectively inhibit osteoblastic matrix gene expression.
Acute Coronary Syndrome
Association of matrix Gla protein gene allelic polymorphisms (G(-7)?A, T(-138)?C and Thr(83)?Ala) with acute coronary syndrome in the Ukrainian population.
Circulating Levels of Dephosphorylated-Uncarboxylated Matrix Gla Protein in Patients with Acute Coronary Syndrome.
Enhanced serum levels of matrix Gla protein and bone morphogenetic protein in acute coronary syndrome patients.
[The frequency of allelic polymorphism of matrix Gla-protein gene in acute coronary syndrome patients].
acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Adenocarcinoma
Down-regulation of matrix Gla protein messenger RNA in human colorectal adenocarcinomas.
Adrenoleukodystrophy
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Albinism
Correlations between photosynthetic enzymes, CO2-fixation and plastid structure in an albino mutant of Zea mays L.
Alkaptonuria
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.
Alopecia
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
New insight into the causes of immunodeficiency disorders.
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Alzheimer Disease
Biotin rescues mitochondrial dysfunction and neurotoxicity in a tauopathy model.
Aneurysm
Proteomic analysis of calcified abdominal and thoracic aortic aneurysms.
Aortic Aneurysm, Abdominal
Vitamin K2 Dependent Matrix Gla Protein Relating to Abdominal Aortic Aneurysm and Overall Mortality: A Combined Case Control and Cohort Study.
Aortic Rupture
Cell differentiation in vascular calcification.
Aortic Valve Disease
Relation of oral anticoagulation to cardiac valvular and coronary calcium assessed by multislice spiral computed tomography.
Aortic Valve Stenosis
Circulating levels of matrix gla protein and progression of aortic stenosis: a substudy of the Aortic Stenosis Progression Observation: Measuring Effects of rosuvastatin (ASTRONOMER) trial.
Undercarboxylated matrix Gla protein is associated with indices of heart failure and mortality in symptomatic aortic stenosis.
Arrhythmias, Cardiac
[EFFECT OF THE CARBOXYLASE COENZYME ON CARDIAC ARRHYTHMIA.]
Arteriosclerosis
Matrix Gla protein reinforces angiogenic resolution.
Arteriovenous Malformations
Matrix Gla protein deficiency causes arteriovenous malformations in mice.
Matrix Gla protein limits pulmonary arteriovenous malformations in ALK1 deficiency.
Ataxia
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.
New insight into the causes of immunodeficiency disorders.
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Atherosclerosis
Association of kidney function and uncarboxylated matrix Gla protein: Data from the Heart and Soul Study.
Atherosclerosis and matrix dystrophy.
Increased levels of the calcification marker matrix Gla Protein and the inflammatory markers YKL-40 and CRP in patients with type 2 diabetes and ischemic heart disease.
Matrix Gla protein is associated with risk factors for atherosclerosis but not with coronary artery calcification.
Matrix Gla protein reinforces angiogenic resolution.
Mineral exploration: search for the mechanism of vascular calcification and beyond: the 2003 Jeffrey M. Hoeg Award lecture.
No Association of Genetic Markers with Carotid Intimal Medial Thickness in ?-Thalassemia Major Patients.
Systemic inflammatory response and calcification markers in patients with long lasting moderate-severe chronic spontaneous urticaria.
The involvement of matrix glycoproteins in vascular calcification and fibrosis: an immunohistochemical study.
Tryptanthrin Regulates Vascular Smooth Muscle Cell Phenotypic Switching in Atherosclerosis by AMP-Activated Protein Kinase/Acetyl-CoA Carboxylase Signaling Pathway.
Vascular calcification: expression patterns of the osteoblast-specific gene core binding factor alpha-1 and the protective factor matrix gla protein in human atherogenesis.
[Risk factors of atherosclerosis in end-stage renal disease patients]
Atrial Fibrillation
Association of GGCX gene polymorphism with warfarin dose in atrial fibrillation population in Xinjiang.
Circulating uncarboxylated matrix Gla protein in patients with atrial fibrillation or heart failure with preserved ejection fraction.
Avitaminosis
[Biotin deficiency in the germ-free rat and propionic acidemia]
beta-Thalassemia
No Association of Genetic Markers with Carotid Intimal Medial Thickness in ?-Thalassemia Major Patients.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Holocarboxylase synthetase deficiency pre and post newborn screening.
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Late-onset holocarboxylase synthetase deficiency.
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Purification and properties of bovine liver holocarboxylase synthetase.
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]
Biotinidase Deficiency
A qualitative assessment of biotinidase deficiency.
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
Biotinidase activity in patients with liver disease.
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
Biotinidase deficiency: a novel vitamin recycling defect.
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
Biotinidase deficiency: initial clinical features and rapid diagnosis.
Biotinidase Deficiency: New Directions and Practical Concerns.
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: the usefulness of multiple study designs.
Deficient biotinidase activity in late-onset multiple carboxylase deficiency.
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Enzyme studies in biotin-responsive disorders.
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
Late-onset holocarboxylase synthetase deficiency.
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum.
Long-term auditory and visual complications of biotinidase deficiency.
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
Neonatal screening for biotinidase deficiency in east-Hungary.
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
Nutritional therapy for selected inborn errors of metabolism.
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
Phenotypic variation in biotinidase deficiency.
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
[Biotinidase deficiency (late-onset multiple carboxylase deficiency)]
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Bone Resorption
Bone markers in the healthy Thai people.
Gene expression analyses in malformed skeletal structures of gilthead sea bream (Sparus aurata).
Unexpected Role of Matrix Gla Protein in Osteoclasts: Inhibiting Osteoclast Differentiation and Bone Resorption.
Brain Diseases
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
Breast Neoplasms
Differential regulation of matrix Gla protein (MGP) gene expression by retinoic acid and estrogen in human breast carcinoma cells.
Downregulation of matrix Gla protein is a biomarker for tamoxifen-resistant and radioresistant breast cancer.
Matrix Gla protein repression by miR-155 promotes oncogenic signals in breast cancer MCF-7 cells.
Overexpression of matrix Gla protein mRNA in malignant human breast cells: isolation by differential cDNA hybridization.
Prognostic value of matrix Gla protein in breast cancer.
Screening of core genes and pathways in breast cancer development via comprehensive analysis of multi gene expression datasets.
Calcinosis
Aortic microcalcification is associated with elastin fragmentation in Marfan syndrome.
Calcinosis cutis associated with primary Sjogren's syndrome: strong expression of osteonectin and matrix Gla protein.
Calcinosis in juvenile dermatomyositis: a possible role for the vitamin K-dependent protein matrix Gla protein.
Expression of osteonectin and matrix Gla protein in scleroderma patients with and without calcinosis.
The association of matrix Gla protein isomers with calcification in capsules surrounding silicone breast implants.
Calciphylaxis
Calciphylaxis in a dialysis patient successfully treated with high-dose vitamin K supplementation.
Vitamin K-Dependent Carboxylation of Matrix Gla Protein Influences the Risk of Calciphylaxis.
Canavan Disease
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Candidiasis
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Carcinoma
Evidence of a warfarin-sensitive cancer procoagulant in V2 carcinoma.
gamma-Glutamyl carboxylase activity in experimental tumor tissues: a biochemical basis for vitamin K dependence of cancer procoagulant.
Role of the AMPK/ACC Signaling Pathway in TRPP2-Mediated Head and Neck Cancer Cell Proliferation.
Specific pattern of LKB1 and phospho-acetyl-CoA carboxylase protein immunostaining in human normal tissues and lung carcinomas.
[Pyruvic acid metabolism. I. Effect of carboxylase on pyruvic acid metabolism in carcinoma and hepatitis epidemica.]
Carcinoma, Hepatocellular
An autocrine factor from Reuber hepatoma cells that stimulates DNA synthesis and acetyl-CoA carboxylase. Characterization of biologic activity and evidence for a glycan structure.
Exon 2 deletion splice variant of gamma-glutamyl carboxylase causes des-gamma-carboxy prothrombin production in hepatocellular carcinoma cell lines.
Identification of mRNA coding for factor VII protein in human alveolar macrophages--coagulant expression may be limited due to deficient postribosomal processing.
Levels of vitamin K, immunoreactive prothrombin, des-gamma-carboxy prothrombin and gamma-glutamyl carboxylase activity in hepatocellular carcinoma tissue.
Measurement of immunoreactive prothrombin precursor and vitamin-K-dependent gamma-carboxylation in human hepatocellular carcinoma tissues: decreased carboxylation of prothrombin precursor as a cause of des-gamma-carboxyprothrombin synthesis.
Rev-erb? activation down-regulates hepatic Pck1 enzyme to lower plasma glucose in mice.
The vitamin K-dependent gamma-glutamyl carboxylase gene contains a TATA-less promoter with a novel upstream regulatory element.
Vitamin K-dependent carboxylase activity, prothrombin mRNA, and prothrombin production in two cultured rat hepatoma cell lines.
Cardiomegaly
Upregulation of cardiac matrix Gla protein expression in response to hypertrophic stimuli.
Cardiovascular Diseases
Arterial calcifications.
Association of the Inactive Circulating Matrix Gla Protein with Vitamin K Intake, Calcification, Mortality, and Cardiovascular Disease: A Review.
Cardiovascular disease genetics: a long and winding road.
Circulating uncarboxylated matrix Gla protein in patients with atrial fibrillation or heart failure with preserved ejection fraction.
Circulating uncarboxylated matrix Gla protein, a marker of vitamin K status, as a risk factor of cardiovascular disease.
Circulating Vitamin K Is Inversely Associated with Incident Cardiovascular Disease Risk among Those Treated for Hypertension in the Health, Aging, and Body Composition Study (Health ABC).
Matrix Gla Protein Species and Risk of Cardiovascular Events in Type 2 Diabetic Patients.
Matrix Gla Protein, Plaque Stability, and Cardiovascular Events in Patients with Severe Atherosclerotic Disease.
Relationship of matrix Gla protein and vitamin K with vascular calcification in hemodialysis patients.
The effect of vitamin K2 supplementation on vascular calcification in haemodialysis patients: a 1-year follow-up randomized trial.
The Role of Vitamin K Status in Cardiovascular Health: Evidence from Observational and Clinical Studies.
carnitine o-palmitoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Carotid Stenosis
Circulating matrix Gla protein: a potential tool to identify minor carotid stenosis with calcification in a risk population.
Cerebral Hemorrhage
Serum Levels of Calcification Inhibitors in Patients With Intracerebral Hemorrhage.
Cerebrovascular Disorders
[ANALYSIS OF ?-GLUTAMYL CARBOXYLASE GENE rs2592551 POLYMORPHISM ASSOCIATION WITH ISCHEMIC ATHEROTHROMBOTIC STROKE].
Cholestasis, Intrahepatic
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.
Chorea
Adult-onset chorea and dementia with propionic acidemia.
Chronic Kidney Disease-Mineral and Bone Disorder
Renal osteodystrophy: alpha-Heremans Schmid glycoprotein/fetuin-A, matrix GLA protein serum levels, and bone histomorphometry.
Citrullinemia
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Coinfection
New insight into the causes of immunodeficiency disorders.
Colitis
Mesenchymal stromal cells-derived matrix Gla protein contribute to the alleviation of experimental colitis.
Colitis, Ulcerative
Association between matrix Gla protein and ulcerative colitis according to DNA microarray data.
Corrigendum to: Association between matrix Gla protein and ulcerative colitis according to DNA microarray data.
Communicable Diseases, Emerging
The vitamin K-dependent carboxylase has been acquired by Leptospira pathogens and shows altered activity that suggests a role other than protein carboxylation.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Corneal Dystrophies, Hereditary
High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health.
Coronary Artery Disease
Association of Genetic Polymorphisms in the Matrix Gla Protein (MGP) Gene with Coronary Artery Disease and Serum MGP Levels.
Circulating Levels of Dephosphorylated-Uncarboxylated Matrix Gla Protein in Patients with Acute Coronary Syndrome.
Role of Matrix Gla Protein in the Complex Network of Coronary Artery Disease: A Comprehensive Review.
The associations of fibroblast growth factor 23 and uncarboxylated matrix Gla protein with mortality in coronary artery disease: the Heart and Soul Study.
Coronary Disease
Circulating phylloquinone, inactive Matrix Gla protein and coronary heart disease risk: A two-sample Mendelian Randomization study.
Matrix Gla Protein Species and Risk of Cardiovascular Events in Type 2 Diabetic Patients.
Polymorphisms of the human matrix gla protein (MGP) gene, vascular calcification, and myocardial infarction.
COVID-19
The Association of Low Vitamin K Status with Mortality in a Cohort of 138 Hospitalized Patients with COVID-19.
Craniofacial Abnormalities
Matrix Gla protein deficiency impairs nasal septum growth, causing midface hypoplasia.
cystathionine beta-synthase deficiency
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Cystinuria
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Dehydration
Dehydration of macromolecules. II. Protective effects of certain anions on ribulosediphosphate carboxylase subjected to low water potenials in vitro.
Effect of drought stress on growth and essential oil metabolism in lemongrasses.
Effects of partial defoliation, changes of irradiance during growth, short-term water stress and growth at enhanced p(CO2) on the photosynthetic capacity of leaves of Phaseolus vulgaris L.
Mesophyll Resistance and Carboxylase Activity: A Comparison under Water Stress Conditions.
Mild Water Stress Effects on Carbon-Reduction-Cycle Intermediates, Ribulose Bisphosphate Carboxylase Activity, and Spatial Homogeneity of Photosynthesis in Intact Leaves.
Dementia
Adult-onset chorea and dementia with propionic acidemia.
Dermatitis
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.
New insight into the causes of immunodeficiency disorders.
Dermatomyositis
Calcinosis in juvenile dermatomyositis: a possible role for the vitamin K-dependent protein matrix Gla protein.
Vitamin K-dependent carboxylase in skin.
Diabetes Mellitus
Arterial calcifications.
Atherosclerosis and matrix dystrophy.
Diabetes Mellitus, Type 2
Correction: Correction: Inactive matrix gla protein plasma levels are associated with peripheral neuropathy in Type 2 diabetes.
Correction: Inactive matrix gla protein plasma levels are associated with peripheral neuropathy in Type 2 diabetes.
Erratum: Vascular calcification in patients with type 2 diabetes: the involvement of matrix Gla protein.
Inactive matrix gla protein plasma levels are associated with peripheral neuropathy in Type 2 diabetes.
Increased levels of the calcification marker matrix Gla Protein and the inflammatory markers YKL-40 and CRP in patients with type 2 diabetes and ischemic heart disease.
Vascular calcification in patients with type 2 diabetes: the involvement of matrix Gla protein.
Diabetic Cardiomyopathies
Effect of gamma-carboxylase inhibition on serum osteocalcin may be partially protective against developing diabetic cardiomyopathy in type 2 diabetic rats.
Diabetic Foot
[Efficacy of thiamine pyrophosphate or carboxylase in the salvage of diabetic foot].
Diabetic Ketoacidosis
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Diabetic Nephropathies
Matrix Gla protein T-138C polymorphism is associated with carotid intima media thickness and predicts mortality in patients with diabetic nephropathy.
DNA Repair-Deficiency Disorders
Nuclear matrix proteins and hereditary diseases.
Endometrial Hyperplasia
Autophagy in the physiological endometrium and cancer.
Endometrial Neoplasms
Autophagy in the physiological endometrium and cancer.
Epilepsy
The anticonvulsant actions of carisbamate associate with alterations in astrocyte glutamine metabolism in the lithium-pilocarpine epilepsy model.
Exanthema
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Fanconi Anemia
Nuclear matrix proteins and hereditary diseases.
Fanconi Syndrome
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Fatty Liver
Berberine Ameliorates High-Fat Diet-Induced Non-Alcoholic Fatty Liver Disease in Rats via Activation of SIRT3/AMPK/ACC Pathway.
Comparison of Antiobesity Effects Between Gochujangs Produced Using Different Koji Products and Tabasco Hot Sauce in Rats Fed a High-Fat Diet.
Identification of novel molecular candidates for fatty liver in the hyperlipidemic mouse model, HcB19.
Molecular mechanisms related to the hepatoprotective effects of antioxidant-rich extra virgin olive oil supplementation in rats subjected to short-term iron administration.
The biochemistry of fatty liver and kidney syndrome. Biotin-mediated restoration of hepatic gluconeogenesis in vitro and its relationship to pyruvate carboxylase activity.
Fetal Diseases
The warfarin embryopathy: a rat model showing maxillonasal hypoplasia and other skeletal disturbances.
Fibrosarcoma
gamma-Glutamyl carboxylase activity in experimental tumor tissues: a biochemical basis for vitamin K dependence of cancer procoagulant.
fumarate hydratase deficiency
Defects of pyruvate metabolism and the Krebs cycle.
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Galactosemias
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Genetic Diseases, Inborn
Keutel Syndrome, a Review of 50 Years of Literature.
Matrix Gla protein deficiency impairs nasal septum growth, causing midface hypoplasia.
Molecular genetics of biotin metabolism: old vitamin, new science.
Glioblastoma
Matrix gla protein (MGP): an overexpressed and migration-promoting mesenchymal component in glioblastoma.
Glioma
Functional Role of Matrix gla Protein in Glioma Cell Migration.
Glycogen Storage Disease
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Heart Diseases
[Fetuin A and matrix GLA protein in long standing type I diabetic patients without ischaemic heart disease]
Heart Failure
Cell differentiation in vascular calcification.
Circulating levels of non-phosphorylated uncarboxylated matrix gla protein are associated with disease severity in patients with chronic heart failure.
Circulating uncarboxylated matrix Gla protein in patients with atrial fibrillation or heart failure with preserved ejection fraction.
No Association of Genetic Markers with Carotid Intimal Medial Thickness in ?-Thalassemia Major Patients.
Protein Biomarkers of Cardiovascular Disease and Mortality in the Community.
The abnormal status of uncarboxylated matrix Gla protein species represents an additional mortality risk in heart failure patients with vascular disease.
Undercarboxylated matrix Gla protein is associated with indices of heart failure and mortality in symptomatic aortic stenosis.
Hepatitis
[Pyruvic acid metabolism. I. Effect of carboxylase on pyruvic acid metabolism in carcinoma and hepatitis epidemica.]
Hepatitis B
Expression of genes involved in lipogenesis is not increased in patients with HCV genotype 3 in human liver.
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency pre and post newborn screening.
Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin.
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Late-onset holocarboxylase synthetase deficiency.
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Purification and properties of bovine liver holocarboxylase synthetase.
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]
homocitrate synthase deficiency
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.
Homocystinuria
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Cases of inborn errors of metabolism diagnosed in children with autism.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Hydronephrosis
Genetic mutation of vitamin K-dependent gamma-glutamyl carboxylase domain in patients with calcium oxalate urolithiasis.
hydroxymethylglutaryl-coa lyase deficiency
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Hypercalcemia
Mineral and bone disorder and vascular calcification in patients with chronic kidney disease.
Vascular calcification in chronic kidney disease: pathogenesis and clinical implications.
Hypercholesterolemia
Exploring genetic variations that may be associated with the direct effects of some antipsychotics on lipid levels.
Hyperglycemia
Phosphorylation state of acetyl-coenzyme A carboxylase. II. Variation with nutritional condition.
Hyperglycinemia, Nonketotic
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Hyperhomocysteinemia
[Lower extremity varicose veins in childhood and at a young age: Mechanism of development and specific features].
Hyperinsulinism
In vivo effects of hyperinsulinemia on lipogenic enzymes and glucose transporter expression in rat liver and adipose tissues.
Hyperlipidemias
Impact of Chicory?Supplemented Diet on HMG?CoA Reductase, Acetyl?CoA Carboxylase, Visfatin and Anti?Oxidant Status in Triton WR?1339?Induced Hyperlipidemia
Hyperostosis
Calcium deposition and associated chronic diseases (atherosclerosis, diffuse idiopathic skeletal hyperostosis, and others).
New developments in our understanding of DISH (diffuse idiopathic skeletal hyperostosis).
Hyperphosphatemia
Mineral and bone disorder and vascular calcification in patients with chronic kidney disease.
The Multifactorial Pathogenesis of Calciphylaxis: A Case Report.
Vascular calcification in chronic kidney disease: pathogenesis and clinical implications.
Hypertension
OS 06-09 THE SYNERGISTIC ASSOCIATION BETWEEN VITAMIN D AND VITAMIN K WITH INCIDENT HYPERTENSION.
Hypertriglyceridemia
Exploring genetic variations that may be associated with the direct effects of some antipsychotics on lipid levels.
Hypoglycemia
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
Hypoprothrombinemias
Effect of N-methyl-thiotetrazole on rat liver microsomal vitamin K-dependent carboxylation.
Vitamin K-dependent carboxylase: increased activity in a hypoprothrombinemia state.
Infections
3-methylcrotonyl Coenzyme A (CoA) carboxylase complex is involved in the Xanthomonas citri subsp. citri lifestyle during citrus infection.
Expression of bovine vitamin K-dependent carboxylase activity in baculovirus-infected insect cells.
Identification of macrophage induced genes of Corynebacterium pseudotuberculosis by differential fluorescence induction.
Inflammatory Bowel Diseases
Inactive matrix Gla protein is elevated in patients with inflammatory bowel disease.
Insulin Resistance
ACC2 Deletion Enhances IMCL Reduction Along With Acetyl-CoA Metabolism and Improves Insulin Sensitivity in Male Mice.
beta-Cell adaptation to insulin resistance. Increased pyruvate carboxylase and malate-pyruvate shuttle activity in islets of nondiabetic Zucker fatty rats.
Knockout of CNR1 prevents metabolic stress-induced cardiac injury through improving insulin resistance (IR) injury and endoplasmic reticulum (ER) stress by promoting AMPK-alpha activation.
Reduced insulin clearance and lower insulin-degrading enzyme expression in the liver might contribute to the thrifty phenotype of protein-restricted mice.
Sterol O-acyltransferase 1 deficiency improves defective insulin signaling in the brains of mice fed a high-fat diet.
Intervertebral Disc Degeneration
Evaluation of 12 Novel Molecular Markers for Degenerated Nucleus Pulposus in a Chinese Population.
Intracranial Arteriovenous Malformations
Reducing Jagged 1 and 2 levels prevents cerebral arteriovenous malformations in matrix Gla protein deficiency.
Ischemic Stroke
ACC1 (Acetyl Coenzyme A Carboxylase 1) Is a Potential Immune Modulatory Target of Cerebral Ischemic Stroke.
Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients.
Matrix Gla protein polymorphism rs1800801 associates with recurrence of ischemic stroke.
Ketosis
Dysautonomia in an infant with secondary hyperammonemia due to propionyl coenzyme A carboxylase deficiency.
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.
Kidney Calculi
A polymorphism of matrix Gla protein gene is associated with kidney stone in the Chinese Han population.
A polymorphism of matrix Gla protein gene is associated with kidney stones.
Prevalence, pathophysiological mechanisms and factors affecting urolithiasis.
[Expression of matrix Gla protein and bone morphogenetic protein 2 in renal papillary tissues in patients with calcium oxalate kidney stones].
Kidney Failure, Chronic
Calcification Biomarkers, Subclinical Vascular Disease, and Mortality Among Multiethnic Dialysis Patients.
Circulating nonphosphorylated carboxylated matrix gla protein predicts survival in ESRD.
Sequential Bone Scintigraphy and the Evolution of Warfarin-Mediated Calcific Uremic Arteriolopathy.
Kwashiorkor
Biotin supplementation affects lymphocyte carboxylases and plasma biotin in severe protein-energy malnutrition.
Leptospirosis
The vitamin K-dependent carboxylase has been acquired by Leptospira pathogens and shows altered activity that suggests a role other than protein carboxylation.
Leukemia
Identification of key pathways and genes in different types of chronic kidney disease based on WGCNA.
Induction of histidine decarboxylase of rat basophilic leukemia (2H3) cells stimulated by higher oligomeric IgE or phorbol myristate acetate.
Leukemia, Lymphocytic, Chronic, B-Cell
Alterations in ornithine decarboxylase and transglutaminase activities in lymphocytes from untreated patients with chronic lymphocytic leukemia.
Liver Diseases
Berberine Ameliorates High-Fat Diet-Induced Non-Alcoholic Fatty Liver Disease in Rats via Activation of SIRT3/AMPK/ACC Pathway.
Biotinidase activity in patients with liver disease.
Generation of isogenic Propionyl-CoA carboxylase beta subunit (PCCB) deficient induced pluripotent stem cell lines.
long-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Lymphatic Metastasis
Increased expression of phospho-acetyl-CoA carboxylase protein is an independent prognostic factor for human gastric cancer without lymph node metastasis.
Lymphoma, B-Cell
Apoptotic effect of lambertianic acid through AMPK/FOXM1 signaling in MDA-MB231 breast cancer cells.
Malaria
Apicoplast acetyl Co-A carboxylase of the human malaria parasite is not targeted by cyclohexanedione herbicides.
Malnutrition
Differential effect of total food withdrawal and dietary protein restriction on brain content of free histidine in the rat.
Maple Syrup Urine Disease
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
medium-chain acyl-coa dehydrogenase deficiency
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Melanoma
B16 tumor cells contain a warfarin sensitive vitamin K1 2,3 epoxide reductase.
Comprehensive genomic analysis contrasting primary colorectal cancer and matched liver metastases.
Metabolic Diseases
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia.
Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.
The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.
Metabolism, Inborn Errors
Studies on inborn errors of metabolism in Norway.
methylcrotonoyl-coa carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Mevalonate Kinase Deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Mucopolysaccharidoses
Biochemical investigation of young hospitalized Chinese children: results over a 7-year period.
Cases of inborn errors of metabolism diagnosed in children with autism.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Biochemical investigation of young hospitalized Chinese children: results over a 7-year period.
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Multiple Carboxylase Deficiency
1H NMR spectra of methylcitric acid in urine.
A biotinidase Km variant causing late onset bilateral optic neuropathy.
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
A qualitative assessment of biotinidase deficiency.
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts.
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy.
Analytical techniques for determining biotin.
Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome.
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency.
Biochemical investigation of young hospitalized Chinese children: results over a 7-year period.
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Biotin dependent carboxylase activities in normal human and multicarboxylase deficient patient fibroblasts: relationship to the biotin content of the culture medium.
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis.
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Biotin transport in the rat central nervous system.
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency.
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
Biotin-responsive multiple carboxylase deficiency and immunodeficiency.
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
Biotin-responsive multiple carboxylase deficiency of infantile onset.
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients.
Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency.
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.
Cutaneous findings of nutritional deficiencies in children.
Defective biotin absorption in multiple carboxylase deficiency.
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
Deficient liver biotinidase activity in multiple carboxylase deficiency.
Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency.
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency.
Effect of biotin deficiency and supplementation on lipid metabolism in rats: cholesterol and lipoproteins.
Enzyme studies in biotin-responsive disorders.
Enzyme studies in combined carboxylase deficiency.
Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
Fetal drug therapy.
Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.
From an inborn error patient to a search for regulatory meaning: a biotin conducted voyage.
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
Holocarboxylase synthetase deficiency pre and post newborn screening.
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.
Holocarboxylase synthetase deficiency: report of one case.
Holocarboxylase synthetase is an obligate participant in biotin-mediated regulation of its own expression and of biotin-dependent carboxylases mRNA levels in human cells.
Identification of 3-hydroxyisovalerylcarnitine in the urine of a patient with multiple carboxylase deficiency.
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency.
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Late-onset holocarboxylase synthetase deficiency.
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
Lipid metabolism in biotin-responsive multiple carboxylase deficiency.
Lymphoblasts and diagnosis of pyruvate carboxylase deficiency.
Magnetic resonance imaging in lactic acidosis.
Management of a patient with holocarboxylase synthetase deficiency.
Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency.
Mechanism of biotin-responsive combined carboxylase deficiency.
Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.
Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency.
Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity.
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase.
Multiple carboxylase deficiency due to deficiency of biotinidase.
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Multiple carboxylase deficiency.
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
Neonatal form of biotin-responsive multiple carboxylase deficiency.
Neonatal screening for biotinidase deficiency in east-Hungary.
Neonatal screening for biotinidase deficiency.
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.
Nuclear matrix proteins and hereditary diseases.
Nutritional therapy for selected inborn errors of metabolism.
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.
Organic aciduria in neonatal multiple carboxylase deficiency.
Outcome of organic acidurias in china.
Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong.
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency.
Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency.
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency.
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
Prenatal treatment of biotin responsive multiple carboxylase deficiency.
Prenatal treatment of multiple carboxylase deficiency.
Protein-bound biotin: a consideration in multiple carboxylase deficiency.
Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts.
Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
Search for the biochemical basis of biotin dependent multiple carboxylase deficiencies: determination of biotin activation in cultured fibroblasts.
Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience.
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Simplified method for the chemical diagnosis of organic aciduria using GC/MS.
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
The neonatal form of biotin-responsive multiple carboxylase deficiency.
Two forms of biotin-responsive multiple carboxylase deficiency.
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
[Applications of mass spectrometry for clinical laboratory test]
[Biotin-responsive multiple carboxylase deficiency]
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients]
[Gene mutation analyses in Chinese children with multiple carboxylase deficiency.]
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
[Gene variant analysis of a patient with multiple carboxylase deficiency].
[Multiple carboxylase deficiency]
[Quantitative analysis of urinary organic acid]
[Results of a pilot study of neonatal screening for congenital biotinidase deficiency]
Multiple Sclerosis
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Muscle Hypotonia
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.
Myocardial Infarction
Association of Dephosphorylated-Uncarboxylated Matrix Gla Protein and Risk of Major Bleeding in Patients Presenting with Acute Myocardial Infarction.
Common genetic variants of MGP are associated with calcification on the arterial wall but not with calcification present in the atherosclerotic plaques.
Polymorphisms of the human matrix gla protein (MGP) gene, vascular calcification, and myocardial infarction.
Myocardial Ischemia
Increased levels of the calcification marker matrix Gla Protein and the inflammatory markers YKL-40 and CRP in patients with type 2 diabetes and ischemic heart disease.
Myoclonus
Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.
Neoplasm Metastasis
Increased expression of phospho-acetyl-CoA carboxylase protein is an independent prognostic factor for human gastric cancer without lymph node metastasis.
Neoplasms
A fluorescence-based thiol quantification assay for ultra-high-throughput screening for inhibitors of coenzyme A production.
Abnormal prothrombin in the plasma of rats carrying hepatic tumors.
Autophagy in the physiological endometrium and cancer.
Direct measurement of vitamin K-dependent enzymes in various isolated and cultured tumor and non-tumor cells.
Dissecting Molecular Mechanisms Underlying Pulmonary Vascular Smooth Muscle Cell Dedifferentiation in Pulmonary Hypertension: Role of Mutated Caveolin-1 (Cav1F92A)-Bone Marrow Mesenchymal Stem Cells.
Downregulation of matrix Gla protein is a biomarker for tamoxifen-resistant and radioresistant breast cancer.
Effects of diverse intracellular thiol delivery agents on glutathione peroxidase activity, the ratio of reduced/oxidized glutathione, and ornithine decarboxylase induction in isolated mouse epidermal cells treated with 12-O-tetradecanoylphorbol-13-acetate.
Evidence of a warfarin-sensitive cancer procoagulant in V2 carcinoma.
Expression of bone matrix protein messenger ribonucleic acids in human breast cancers. Possible involvement of osteopontin in development of calcifying foci.
Expression of the matrix Gla protein in urogenital malignancies.
gamma-Glutamyl carboxylase activity in experimental tumor tissues: a biochemical basis for vitamin K dependence of cancer procoagulant.
Genetic mutation of vitamin K-dependent gamma-glutamyl carboxylase domain in patients with calcium oxalate urolithiasis.
Histological evaluation of AMPK signalling in primary breast cancer.
Inhibitor of DNA binding-4 promotes angiogenesis and growth of glioblastoma multiforme by elevating matrix GLA levels.
Interactions of protein kinase CK2beta subunit within the holoenzyme and with other proteins.
Intracellular matrix Gla protein promotes tumor progression by activating JAK2/STAT5 signaling in gastric cancer.
Liver kinase B1 (LKB1) in the pathogenesis of UVB-induced murine basal cell carcinoma.
Matrix Gla protein in tumoral pathology.
Mechanical microenvironment regulation of age-related diseases involving degeneration of human skeletal and cardiovascular systems.
Mechanism of the abnormal vitamin K-dependent gamma-carboxylation process in human hepatocellular carcinomas.
Methylcrotonoyl-CoA carboxylase 2 overexpression predicts an unfavorable prognosis and promotes cell proliferation in breast cancer.
MGP Promotes Colon Cancer Proliferation by Activating the NF-?B Pathway through Upregulation of the Calcium Signaling Pathway.
Microdermabrasion: a molecular analysis following a single treatment.
Modulators of Networks: Molecular Targets of Arterial Calcification Identified in Man and Mice.
Predictors of coronary artery calcification and its association with cardiovascular events in patients with chronic kidney disease.
Short communication: Effect of heat stress during the dry period on gene expression in mammary tissue and peripheral blood mononuclear cells.
Suppression MGP inhibits tumor proliferation and reverses oxaliplatin resistance in colorectal cancer.
Synergistic effect of mammary tumors on hexachlorobenzene-induced porphyria in rats.
Vitamin-K-dependent proteins in microsomes of primary Lewis lung tumors.
Nephrolithiasis
Calcium oxalate nephrolithiasis and expression of matrix GLA protein in the kidneys.
Status of Single Nucleotide Polymorphism of Matrix Gla Protein Gene (rs4236) in Nephrolithiasis: A Preliminary Study in Indian Population.
The risk of nephrolithiasis is causally related to inactive matrix Gla protein, a marker of vitamin K status: a Mendelian randomization study in a Flemish population.
Nervous System Diseases
Cardiovascular disease genetics: a long and winding road.
Neuroblastoma
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Mechanism of regulation of ornithine decarboxylase gene expression by asparagine in a variant mouse neuroblastoma cell line.
Neurodegenerative Diseases
The Role of Vitamin K in Humans: Implication in Aging and Age-Associated Diseases.
Neurologic Manifestations
Effect of biotin deficiency and supplementation on lipid metabolism in rats: cholesterol and lipoproteins.
Non-alcoholic Fatty Liver Disease
Berberine Ameliorates High-Fat Diet-Induced Non-Alcoholic Fatty Liver Disease in Rats via Activation of SIRT3/AMPK/ACC Pathway.
Obesity
A fluorescence-based thiol quantification assay for ultra-high-throughput screening for inhibitors of coenzyme A production.
ornithine carbamoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Quantitative analysis of urinary organic acid]
Ornithine Carbamoyltransferase Deficiency Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Quantitative analysis of urinary organic acid]
Osteoarthritis
Characterization of dynamic changes in Matrix Gla Protein (MGP) gene expression as function of genetic risk alleles, osteoarthritis relevant stimuli, and the vitamin K inhibitor warfarin.
Effect of GGCX on the differentiation function of osteoporosis bone marrow mesenchymal stem cells through regulating TGF?/smad signaling pathway.
Effects of GGCX overexpression on anterior cruciate ligament transection-induced osteoarthritis in rabbits.
Expression analysis of the osteoarthritis genetic susceptibility mapping to the matrix Gla protein gene MGP.
Genome-wide association and functional studies identify a role for matrix Gla protein in osteoarthritis of the hand.
Matrix Gla Protein Polymorphism, But Not Concentrations, Is Associated with Radiographic Hand Osteoarthritis.
Multiple Modes of Vitamin K Actions in Aging-Related Musculoskeletal Disorders.
Vitamin K-Dependent Proteins in Skeletal Development and Disease.
Osteoarthritis, Knee
Application of 3D-FS-SPGR imaging combined synovial fluid GGCX detection in the evaluation of knee osteoarthritis.
Association of matrix Gla protein polymorphism and knee osteoarthritis in a chinese population.
Genetic association analysis of Osteopontin and Matrix Gla Protein genes polymorphisms with primary knee osteoarthritis in Mexican population.
[Effects of Short Thrust Needing plus Electroacupuncture Intervention on Cartilage Tissue in Rabbits with Knee Osteoarthritis].
Osteochondrosis
Molecular characterization and methylation study of matrix gla protein in articular cartilage from pig with osteochondrosis.
Osteoporosis
Cardiovascular disease genetics: a long and winding road.
Effect of GGCX on the differentiation function of osteoporosis bone marrow mesenchymal stem cells through regulating TGF?/smad signaling pathway.
Effect of serum fibroblast growth factor-23, matrix Gla protein and Fetuin-A in predicting osteoporosis in maintenance hemodialysis patients.
Genetic aspects of osteoporosis.
Long-term warfarin therapy and biomarkers for osteoporosis and atherosclerosis.
Matrix Gla Protein Promotes the Bone Formation by Up-Regulating Wnt/?-Catenin Signaling Pathway.
Mechanical microenvironment regulation of age-related diseases involving degeneration of human skeletal and cardiovascular systems.
[Effect of parathyroid hormone (1-34) on expression of matrix Gla protein and Wnt/? catenin signaling pathways in MG63 cell lines].
Osteoporosis, Postmenopausal
[Effect of estrogen on the expression of matrix GLA protein in ovariectomized SD rats].
Osteosarcoma
1,25-Dihydroxyvitamin D3 stimulates the synthesis of matrix gamma-carboxyglutamic acid protein by osteosarcoma cells. Mutually exclusive expression of vitamin K-dependent bone proteins by clonal osteoblastic cell lines.
Induction of matrix Gla protein synthesis during prolonged 1,25-dihydroxyvitamin D3 treatment of osteosarcoma cells.
Vitamin K2 regulation of bone homeostasis is mediated by the steroid and xenobiotic receptor SXR.
Ovarian Neoplasms
The Role of Matrix Gla Protein (MGP) Expression in Paclitaxel and Topotecan Resistant Ovarian Cancer Cell Lines.
Pancreatitis
Serum matrix Gla protein concentrations in patients with mild and severe acute pancreatitis.
pantoate-beta-alanine ligase (amp-forming) deficiency
Nutritional therapy for selected inborn errors of metabolism.
Paratuberculosis
Identification of Mycobacterium avium genes that affect invasion of the intestinal epithelium.
Paresis
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Parkinsonian Disorders
Improved control of brittle Parkinsonism by separate administration of levodopa and benserazide.
Treating parkinsonism with L-dopa and carboxylase inhibitor.
peptidyl-glutamate 4-carboxylase deficiency
1H NMR spectra of methylcitric acid in urine.
A biotinidase Km variant causing late onset bilateral optic neuropathy.
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
A qualitative assessment of biotinidase deficiency.
A simple method for the preparation of antibodies to the mitochondrial biotin-dependent carboxylases.
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts.
Absence of cross-reacting material in isolated propionyl CoA carboxylase deficiency: nature of residual carboxylating activity.
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.
Adult-onset chorea and dementia with propionic acidemia.
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy.
Analytical techniques for determining biotin.
Asymptomatic propionyl CoA carboxylase deficiency in a 13-year-old girl.
Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome.
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
Bioavailability of biotin given orally to humans in pharmacologic doses.
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
Biochemical characterization of propionyl CoA carboxylase deficiency: heterogeneity within a single genetic complementation group.
Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency.
Biochemical investigation of young hospitalized Chinese children: results over a 7-year period.
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Biotin dependent carboxylase activities in normal human and multicarboxylase deficient patient fibroblasts: relationship to the biotin content of the culture medium.
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis.
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Biotin transport in the rat central nervous system.
Biotin uptake, utilization, and efflux in normal and biotin-deficient rat hepatocytes.
Biotin-dependent carboxylase deficiencies (propionyl-CoA and pyruvate carboxylases).
Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin.
Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency.
Biotin-responsive in vivo carboxylase deficiency in two siblings with secretory diarrhea receiving total parenteral nutrition.
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
Biotin-responsive multiple carboxylase deficiency and immunodeficiency.
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
Biotin-responsive multiple carboxylase deficiency of infantile onset.
Biotinidase activity in patients with liver disease.
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
Biotinidase deficiency: a novel vitamin recycling defect.
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
Biotinidase deficiency: initial clinical features and rapid diagnosis.
Biotinidase Deficiency: New Directions and Practical Concerns.
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.
Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients.
Cases of inborn errors of metabolism diagnosed in children with autism.
Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency.
Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies.
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: the usefulness of multiple study designs.
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Cutaneous findings of nutritional deficiencies in children.
Defective biotin absorption in multiple carboxylase deficiency.
Defects of pyruvate metabolism and the Krebs cycle.
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
Deficient biotinidase activity in late-onset multiple carboxylase deficiency.
Deficient liver biotinidase activity in multiple carboxylase deficiency.
Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency.
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency.
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Effect of biotin deficiency and supplementation on lipid metabolism in rats: cholesterol and lipoproteins.
Enzyme studies in biotin-responsive disorders.
Enzyme studies in combined carboxylase deficiency.
Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.
Fatty acid alterations and carboxylase deficiencies in the skin of biotin-deficient rats.
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
Fetal drug therapy.
Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.
From an inborn error patient to a search for regulatory meaning: a biotin conducted voyage.
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
Holocarboxylase synthetase deficiency pre and post newborn screening.
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.
Holocarboxylase synthetase deficiency: report of one case.
Holocarboxylase synthetase is an obligate participant in biotin-mediated regulation of its own expression and of biotin-dependent carboxylases mRNA levels in human cells.
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.
Identification of 3-hydroxy-3-ethylglutaric acid in urine of patients with propionic acidaemia.
Identification of 3-hydroxyisovalerylcarnitine in the urine of a patient with multiple carboxylase deficiency.
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency.
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia.
Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin.
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Inhibition of bone morphogenetic protein signal transduction prevents the medial vascular calcification associated with matrix Gla protein deficiency.
Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Late-onset holocarboxylase synthetase deficiency.
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
Lipid metabolism in biotin-responsive multiple carboxylase deficiency.
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum.
Liver transplantation in propionic acidaemia.
Lymphoblasts and diagnosis of pyruvate carboxylase deficiency.
Magnetic resonance imaging in lactic acidosis.
Management of a patient with holocarboxylase synthetase deficiency.
Matrix Gla protein deficiency causes arteriovenous malformations in mice.
Matrix Gla protein deficiency impairs nasal septum growth, causing midface hypoplasia.
Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency.
Mechanism of biotin-responsive combined carboxylase deficiency.
Metabolic annotation of 2-ethylhydracrylic acid.
Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.
Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency.
Molecular basis for genetic complementation in propionyl CoA carboxylase deficiency.
Multiple biotin-dependent carboxylase deficiencies associated with defects in immunity.
Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity.
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase.
Multiple carboxylase deficiency due to deficiency of biotinidase.
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Multiple carboxylase deficiency.
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
Neonatal form of biotin-responsive multiple carboxylase deficiency.
Neonatal screening for biotinidase deficiency in east-Hungary.
Neonatal screening for biotinidase deficiency.
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.
Nuclear matrix proteins and hereditary diseases.
Nutritional therapy for selected inborn errors of metabolism.
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.
Organic aciduria in neonatal multiple carboxylase deficiency.
Outcome of organic acidurias in china.
Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong.
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency.
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia.
Phenotypic variation in biotinidase deficiency.
Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency.
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency.
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
Prenatal treatment of biotin responsive multiple carboxylase deficiency.
Prenatal treatment of multiple carboxylase deficiency.
Protein-bound biotin: a consideration in multiple carboxylase deficiency.
Pyroglutamic aciduria in propionyl CoA carboxylase deficiency.
Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts.
Quantitative acylcarnitine determination by UHPLC-MS/MS - Going beyond tandem MS acylcarnitine "profiles".
Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.
Reassessment of biotin-responsiveness in "unresponsive" propionyl CoA carboxylase deficiency.
Recovery from neurological deficits following biotin treatment in a biotinidase Km variant.
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.
Reducing Jagged 1 and 2 levels prevents cerebral arteriovenous malformations in matrix Gla protein deficiency.
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
Search for the biochemical basis of biotin dependent multiple carboxylase deficiencies: determination of biotin activation in cultured fibroblasts.
Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience.
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Simplified method for the chemical diagnosis of organic aciduria using GC/MS.
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
Studies on inborn errors of metabolism in Norway.
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
The biotin-dependent carboxylase deficiencies.
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
The neonatal form of biotin-responsive multiple carboxylase deficiency.
Two forms of biotin-responsive multiple carboxylase deficiency.
Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.
Urinary acid profiles of asymptomatic propionyl CoA carboxylase deficiency.
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
[3-methylc-rotonyl-CoA carboxylase deficiency: a case report]
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
[Applications of mass spectrometry for clinical laboratory test]
[Biotin deficiency in the germ-free rat and propionic acidemia]
[Biotin-dependent carboxylase deficiency]
[Biotin-responsive multiple carboxylase deficiency]
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Gene mutation analyses in Chinese children with multiple carboxylase deficiency.]
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
[Gene variant analysis of a patient with multiple carboxylase deficiency].
[Infant boy with propionic acidemia: anesthetic implications]
[Juvenile optic neuropathy caused by Km variants of biotinidase]
[Multiple biotin-dependent carboxylase deficiencies (author's transl)]
[Multiple carboxylase deficiency]
[Quantitative analysis of urinary organic acid]
[Results of a pilot study of neonatal screening for congenital biotinidase deficiency]
Peripheral Nervous System Diseases
Correction: Correction: Inactive matrix gla protein plasma levels are associated with peripheral neuropathy in Type 2 diabetes.
Correction: Inactive matrix gla protein plasma levels are associated with peripheral neuropathy in Type 2 diabetes.
Inactive matrix gla protein plasma levels are associated with peripheral neuropathy in Type 2 diabetes.
Phenylketonurias
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
A qualitative assessment of biotinidase deficiency.
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Cases of inborn errors of metabolism diagnosed in children with autism.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
phosphatidylcholine-sterol o-acyltransferase deficiency
Studies on inborn errors of metabolism in Norway.
Prediabetic State
The low levels of bone morphogenic protein-4 and its antagonist noggin in type 2 diabetes.
Propionic Acidemia
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Absence of cross-reacting material in isolated propionyl CoA carboxylase deficiency: nature of residual carboxylating activity.
Acute psychosis in propionic acidemia: 2 case reports.
Adult-onset chorea and dementia with propionic acidemia.
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Anaplerotic therapy in propionic acidemia.
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.
Asymptomatic propionyl CoA carboxylase deficiency in a 13-year-old girl.
Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome.
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
Biochemical characterization of propionyl CoA carboxylase deficiency: heterogeneity within a single genetic complementation group.
Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.
Clinical characteristics and mutation analysis of propionic acidemia in Thailand.
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia.
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Fatal metabolic stroke in a child with propionic acidemia 11 years post liver transplant.
Generation of isogenic Propionyl-CoA carboxylase beta subunit (PCCB) deficient induced pluripotent stem cell lines.
Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.
Human propionyl CoA carboxylase: some properties of the partially purified enzyme in fibroblasts from controls and patients with propionic acidemia.
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.
Identification of 2,2-Dimethylbutanoic Acid (HST5040), a Clinical Development Candidate for the Treatment of Propionic Acidemia and Methylmalonic Acidemia.
Identification of 3-hydroxy-3-ethylglutaric acid in urine of patients with propionic acidaemia.
Immunological studies of propionyl CoA carboxylase in livers and fibroblasts of patients with propionic acidemia.
Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia.
Long-term follow-up with filter paper samples in patients with propionic acidemia.
Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia.
Metabolic annotation of 2-ethylhydracrylic acid.
Metabolic changes associated with hyperammonemia in patients with propionic acidemia.
Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.
Molecular basis for genetic complementation in propionyl CoA carboxylase deficiency.
Mutation analysis in 54 propionic acidemia patients.
Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.
Outcome of organic acidurias in china.
Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.
Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.
Pyroglutamic aciduria in propionyl CoA carboxylase deficiency.
Reassessment of biotin-responsiveness in "unresponsive" propionyl CoA carboxylase deficiency.
Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.
Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience.
Simplified method for the chemical diagnosis of organic aciduria using GC/MS.
Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.
Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
Towards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia.
Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.
Urinary acid profiles of asymptomatic propionyl CoA carboxylase deficiency.
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
[Biotin deficiency in the germ-free rat and propionic acidemia]
[Diagnosis and follow up of 23 children with organic acidurias]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Infant boy with propionic acidemia: anesthetic implications]
Protein Deficiency
Inhibition of bone morphogenetic protein signal transduction prevents the medial vascular calcification associated with matrix Gla protein deficiency.
Matrix Gla protein deficiency causes arteriovenous malformations in mice.
Matrix Gla protein deficiency impairs nasal septum growth, causing midface hypoplasia.
Reducing Jagged 1 and 2 levels prevents cerebral arteriovenous malformations in matrix Gla protein deficiency.
Protein-Energy Malnutrition
Biotin supplementation affects lymphocyte carboxylases and plasma biotin in severe protein-energy malnutrition.
Pseudoxanthoma Elasticum
Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules.
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
Matrix Gla Protein and Alkaline Phosphatase Are Differently Modulated in Human Dermal Fibroblasts from PXE Patients and Controls.
Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients.
Pseudoxanthoma elasticum: Reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6(-)(/)(-)).
Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.
The local calcification inhibitor matrix Gla protein in pseudoxanthoma elasticum.
Vitamin K-dependent carboxylation.
Psoriasis
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy.
Pulmonary Disease, Chronic Obstructive
Low Vitamin K Status Is Associated with Increased Elastin Degradation in Chronic Obstructive Pulmonary Disease.
pyruvate carboxylase deficiency
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
Pyruvate Carboxylase Deficiency Disease
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
Renal Insufficiency, Chronic
Arterial calcifications.
Assessment of Matrix Gla Protein, Klotho Gene Polymorphisms, and Oxidative Stress in Chronic Kidney Disease.
Correlations of Plasma Desphosphorylated Uncarboxylated Matrix Gla Protein with Vascular Calcification and Vascular Stiffness in Chronic Kidney Disease.
Growth Arrest-specific 6 Protein and Matrix Gla Protein in Hemodialysis Patients.
Impaired vitamin K recycling in uremia is rescued by vitamin K supplementation.
Matrix GLA protein gene polymorphisms: clinical correlates and cardiovascular mortality in chronic kidney disease patients.
Matrix Gla protein is an independent predictor of both intimal and medial vascular calcification in chronic kidney disease.
Plasma Desphospho-Uncarboxylated Matrix Gla Protein as a Marker of Kidney Damage and Cardiovascular Risk in Advanced Stage of Chronic Kidney Disease.
Predictors of coronary artery calcification and its association with cardiovascular events in patients with chronic kidney disease.
The Association of dp-ucMGP with Cardiovascular Morbidity and Decreased Renal Function in Diabetic Chronic Kidney Disease.
The bone-vascular axis in chronic kidney disease.
The circulating inactive form of matrix gla protein is a surrogate marker for vascular calcification in chronic kidney disease: a preliminary report.
The Role of Vitamin K Status in Cardiovascular Health: Evidence from Observational and Clinical Studies.
Vascular Calcification in Chronic Kidney Disease: The Role of Vitamin K- Dependent Matrix Gla Protein.
Respiratory Distress Syndrome, Newborn
Management of a patient with holocarboxylase synthetase deficiency.
Rotator Cuff Tear Arthropathy
Calcium deposition and associated chronic diseases (atherosclerosis, diffuse idiopathic skeletal hyperostosis, and others).
Seizures
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Sepsis
Cyclosporine A attenuates cardiac dysfunction induced by sepsis via inhibiting calcineurin and activating AMPK signaling.
short-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Quantitative acylcarnitine determination by UHPLC-MS/MS - Going beyond tandem MS acylcarnitine "profiles".
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Sjogren's Syndrome
Calcinosis cutis associated with primary Sjogren's syndrome: strong expression of osteonectin and matrix Gla protein.
Sleep Apnea, Obstructive
Bone metabolism parameters and inactive matrix Gla protein in patients with obstructive sleep apnea†.
Spondylitis, Ankylosing
Decreased local and systematic matrix Gla protein (MGP) expression and its link to radiographic progression in ankylosing spondylitis patients.
Squamous Cell Carcinoma of Head and Neck
Role of the AMPK/ACC Signaling Pathway in TRPP2-Mediated Head and Neck Cancer Cell Proliferation.
Starvation
Changes in the properties of cytosolic acetyl-CoA carboxylase studied in cold-clamped liver samples from fed, starved and starved-refed rats.
Differential effect of total food withdrawal and dietary protein restriction on brain content of free histidine in the rat.
Induction of beta-methylcrotonyl-coenzyme A carboxylase in higher plant cells during carbohydrate starvation: evidence for a role of MCCase in leucine catabolism.
On the mechanism of gluconeogenesis and its regulation. 3. The glucogenic capacity and the activities of pyruvate carboxylase and PEP-carboxylase of rat kidney and rat liver after cortisol treatment and starvation.
Stenosis, Pulmonary Artery
Matrix GLA protein, an inhibitory morphogen in pulmonary vascular development.
steroid 21-monooxygenase deficiency
Fetal drug therapy.
Stomach Neoplasms
Increased expression of phospho-acetyl-CoA carboxylase protein is an independent prognostic factor for human gastric cancer without lymph node metastasis.
Intracellular matrix Gla protein promotes tumor progression by activating JAK2/STAT5 signaling in gastric cancer.
Stroke
[ANALYSIS OF ?-GLUTAMYL CARBOXYLASE GENE rs2592551 POLYMORPHISM ASSOCIATION WITH ISCHEMIC ATHEROTHROMBOTIC STROKE].
[Analysis of matrix Gla-protein (MGP) G-7A polymorphism association with ischemic atherothrombotic stroke in persons with risk factors].
[The polymorphism of matrix Gla-protein gene in ischemic atherothrombotic stroke patients].
Tauopathies
Biotin rescues mitochondrial dysfunction and neurotoxicity in a tauopathy model.
Tooth Loss
Association of natural tooth loss with genetic variation at the human matrix Gla protein locus in elderly women.
Tuberculosis
AccD6, a member of the Fas II locus, is a functional carboxyltransferase subunit of the acyl-coenzyme A carboxylase in Mycobacterium tuberculosis.
Crystal structure of the essential biotin-dependent carboxylase AccA3 from Mycobacterium tuberculosis.
Identification of Mycobacterium avium genes that affect invasion of the intestinal epithelium.
Tyrosinemias
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Urea Cycle Disorders, Inborn
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Uremia
Attenuation of Chondrogenic Transformation in Vascular Smooth Muscle by Dietary Quercetin in the MGP-Deficient Mouse Model.
Urolithiasis
Activity and Expression of Vitamin K-Dependent Gamma-Glutamyl Carboxylase in Patients with Calcium Oxalate Urolithiasis.
Decreased renal vitamin K-dependent gamma-glutamyl carboxylase activity in calcium oxalate calculi patients.
Enhanced renal vitamin-K-dependent gamma-glutamyl carboxylase activity in experimental rat urolithiasis.
Genetic mutation of vitamin K-dependent gamma-glutamyl carboxylase domain in patients with calcium oxalate urolithiasis.
Varicose Veins
Identification of differentially expressed genes in human varicose veins: involvement of matrix gla protein in extracellular matrix remodeling.
[Lower extremity varicose veins in childhood and at a young age: Mechanism of development and specific features].
Vascular Calcification
?-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.
A role for the endothelium in vascular calcification.
Arterial stiffness, vascular calcification and bone metabolism in chronic kidney disease.
Association of kidney function and uncarboxylated matrix Gla protein: Data from the Heart and Soul Study.
Association of matrix ?-carboxyglutamic acid protein levels with insulin resistance and Lp(a) in diabetes: A cross-sectional study.
Association of Matrix Gla protein gene (rs1800801, rs1800802, rs4236) polymorphism with vascular calcification and atherosclerotic disease: a meta-analysis.
Bone metabolism regulators and arterial stiffness in postmenopausal women.
Calcimimetic and vitamin D analog use in hemodialyzed patients is associated with increased levels of vitamin K dependent proteins.
Calcitriol Accelerates Vascular Calcification Irrespective of Vitamin K Status in a Rat Model of Chronic Kidney Disease with Hyperphosphatemia and Secondary Hyperparathyroidism.
Calcium scores and matrix Gla protein levels: association with vitamin K status.
Cardiac valve calcification and use of anticoagulants: Preliminary observation of a potentially modifiable risk factor.
Cell differentiation in vascular calcification.
Circulating calcification inhibitors and vascular properties in children after renal transplantation.
Circulating Levels of Dephosphorylated-Uncarboxylated Matrix Gla Protein in Patients with Acute Coronary Syndrome.
Circulating matrix Gla protein is associated with coronary artery calcification and vitamin K status in healthy women.
Circulating matrix Gla protein: a potential tool to identify minor carotid stenosis with calcification in a risk population.
Circulating species of matrix Gla protein and the risk of vascular calcification in healthy women.
Concerns about clinical efficacy and safety of warfarin in diabetic patients with atrial fibrillation.
Correlations of Plasma Desphosphorylated Uncarboxylated Matrix Gla Protein with Vascular Calcification and Vascular Stiffness in Chronic Kidney Disease.
Dephosphorylated-uncarboxylated Matrix Gla protein concentration is predictive of vitamin K status and is correlated with vascular calcification in a cohort of hemodialysis patients.
Does Prolonged Warfarin Exposure Potentiate Coronary Calcification in Humans? Results of the Warfarin and Coronary Calcification Study.
Emerging Role of Vitamins D and K in Modulating Uremic Vascular Calcification: The Aspect of Passive Calcification.
Erratum: Vascular calcification in patients with type 2 diabetes: the involvement of matrix Gla protein.
Expression of matrix Gla protein (MGP) in an in vitro model of vascular calcification.
Functional Study of the Vitamin K Cycle Enzymes in Live Cells.
Gamma-glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.
Gene polymorphism association studies in dialysis: the nutrition-inflammation axis.
Growth Arrest-specific 6 Protein and Matrix Gla Protein in Hemodialysis Patients.
Impaired vitamin K recycling in uremia is rescued by vitamin K supplementation.
Inactivation of the osteopontin gene enhances vascular calcification of matrix Gla protein-deficient mice: evidence for osteopontin as an inducible inhibitor of vascular calcification in vivo.
Inactive matrix Gla protein is elevated in patients with inflammatory bowel disease.
Inactive Matrix Gla Protein, Arterial Stiffness, and Endothelial Function in African American Hemodialysis Patients.
Increased Peripheral Arterial Calcification in Patients Receiving Warfarin.
Inhibiting the progression of arterial calcification with vitamin K in HemoDialysis patients (iPACK-HD) trial: rationale and study design for a randomized trial of vitamin K in patients with end stage kidney disease.
Inhibition of bone morphogenetic protein signal transduction prevents the medial vascular calcification associated with matrix Gla protein deficiency.
Magnesium prevents vascular calcification in Klotho deficiency.
Matrix Gla protein (MGP) promoter polymorphic variants and its serum level in stenosis of coronary artery.
Matrix Gla protein expression in NRK-52E cells exposed to oxalate and calcium oxalate monohydrate crystals.
Matrix Gla protein is an independent predictor of both intimal and medial vascular calcification in chronic kidney disease.
Matrix Gla Protein is Involved in Crystal Formation in Kidney of Hyperoxaluric Rats.
Matrix gla protein is regulated by a mechanism functionally related to the calcium-sensing receptor.
Matrix gla protein metabolism in vascular smooth muscle and role in uremic vascular calcification.
Matrix Gla protein polymorphisms are associated with coronary artery calcification in men.
Mechanical microenvironment regulation of age-related diseases involving degeneration of human skeletal and cardiovascular systems.
Mineral exploration: search for the mechanism of vascular calcification and beyond: the 2003 Jeffrey M. Hoeg Award lecture.
Missense mutation of VKORC1 leads to medial arterial calcification in rats.
Molecular mechanisms mediating vascular calcification: role of matrix Gla protein.
New insights for matrix Gla protein, vascular calcification and cardiovascular risk and outcome.
Novel conformation-specific antibodies against matrix gamma-carboxyglutamic acid (Gla) protein: undercarboxylated matrix Gla protein as marker for vascular calcification.
Novel insights into uremic vascular calcification: role of matrix Gla protein and alpha-2-Heremans Schmid glycoprotein/fetuin.
Novel mechanisms in accelerated vascular calcification in renal disease patients.
Optical imaging of hydroxyapatite in the calcified vasculature of transgenic animals.
Polymorphism in the human matrix Gla protein gene is associated with the progression of vascular calcification in maintenance hemodialysis patients.
Polymorphisms of the human matrix gla protein (MGP) gene, vascular calcification, and myocardial infarction.
Prevalence of Vertebral Fractures, Vascular Calcifications, and Mortality in Warfarin Treated Hemodialysis Patients.
Proatherogenic pathways leading to vascular calcification.
Proteomic analysis of calcified abdominal and thoracic aortic aneurysms.
Quercetin attenuates warfarin-induced vascular calcification in vitro independently from matrix Gla protein.
Randall's plaque and calcium oxalate stone formation: role for immunity and inflammation.
Regulatory mechanisms in vascular calcification.
Relationship between immunological rejection and matrix GLA protein in cryopreserved vascular allografts.
Relationship of matrix Gla protein and vitamin K with vascular calcification in hemodialysis patients.
Role of calcification inhibitors in the pathogenesis of vascular calcification in chronic kidney disease (CKD).
Role of matrix Gla protein in angiotensin II-induced exacerbation of vascular calcification.
Role of Matrix Gla Protein in the Complex Network of Coronary Artery Disease: A Comprehensive Review.
Serum Levels of Calcification Inhibitors in Patients With Intracerebral Hemorrhage.
Smooth muscle cell phenotypic transition associated with calcification: upregulation of Cbfa1 and downregulation of smooth muscle lineage markers.
T-138C polymorphism of matrix gla protein promoter alters its expression but is not directly associated with atherosclerotic vascular calcification.
The association between uncarboxylated matrix Gla protein and lipoprotein-associated phospholipase A2.
The association of uncarboxylated matrix Gla protein with mitral annular calcification differs by diabetes status: The Heart and Soul study.
The associations of fibroblast growth factor 23 and uncarboxylated matrix Gla protein with mortality in coronary artery disease: the Heart and Soul Study.
The calcimimetic calindol prevents high phosphate-induced vascular calcification by upregulating matrix GLA protein.
The circulating inactive form of matrix gla protein is a surrogate marker for vascular calcification in chronic kidney disease: a preliminary report.
The coincidence of low vitamin K status and high expression of growth differentiation factor 15 may indicate increased mortality risk in stable coronary heart disease patients.
The effect of vitamin K2 supplementation on vascular calcification in haemodialysis patients: a 1-year follow-up randomized trial.
The influence of phosphate, calcium and magnesium on matrix Gla-protein and vascular calcification: a systematic review.
The Inhibitory Roles of Vitamin K in Progression of Vascular Calcification.
The role of bone morphogenetic protein signaling in vascular calcification.
The role of matrix Gla protein (MGP) in vascular calcification.
The Role of Vitamin K in Humans: Implication in Aging and Age-Associated Diseases.
Thyroid hormone targets matrix Gla protein gene associated with vascular smooth muscle calcification.
Total chemical synthesis of human matrix Gla protein.
Two Sides of MGP-Null Arterial Disease: Chondrogenic Lesions Dependent on Transglutaminase 2 and Elastin Fragmentation Associated with Induction of Adipsin.
Undercarboxylated matrix Gla protein is associated with indices of heart failure and mortality in symptomatic aortic stenosis.
Vascular calcification in chronic kidney disease.
Vascular calcification in chronic kidney disease: mechanisms and clinical implications.
Vascular calcification in chronic kidney disease: pathogenesis and clinical implications.
Vascular Calcification in Chronic Kidney Disease: The Role of Vitamin K- Dependent Matrix Gla Protein.
Vascular calcification in patients with type 2 diabetes: the involvement of matrix Gla protein.
Vascular calcification: expression patterns of the osteoblast-specific gene core binding factor alpha-1 and the protective factor matrix gla protein in human atherogenesis.
Vascular smooth muscle cell differentiation to an osteogenic phenotype involves TRPM7 modulation by magnesium.
Vitamin K and vascular calcifications.
Vitamin K status and vascular calcification: evidence from observational and clinical studies.
Vitamin K Supplementation for the Prevention of Cardiovascular Disease: Where Is the Evidence? A Systematic Review of Controlled Trials.
Vitamin K-Dependent Carboxylation of Matrix Gla Protein Influences the Risk of Calciphylaxis.
Vitamin K2 Dependent Matrix Gla Protein Relating to Abdominal Aortic Aneurysm and Overall Mortality: A Combined Case Control and Cohort Study.
Vitamin K2 supplementation in haemodialysis patients: a randomized dose-finding study.
Vitamin K: key vitamin in controlling vascular calcification in chronic kidney disease.
Warfarin accelerated vascular calcification and worsened cardiac dysfunction in remnant kidney mice.
Warfarin in nonvalvular atrial fibrillation-Time for a change?
Warfarin Induces Cardiovascular Damage in Mice.
Wnt16 Attenuates TGF?-Induced Chondrogenic Transformation in Vascular Smooth Muscle.
[Current concepts of vascular calcification]
[Mechanism of arterial calcification with regards to atherosclerotic calcification and medial artery calcification]
[Vascular calcification and bone-related factors]
[Vitamin K and vascular calcification]
Vascular Diseases
Inhibition of bone morphogenetic proteins protects against atherosclerosis and vascular calcification.
Proline and gamma-carboxylated glutamate residues in matrix Gla protein are critical for binding of bone morphogenetic protein-4.
Serum total matrix Gla protein: Reference interval in healthy adults and variations in patients with vascular and osteoarticular diseases.
The abnormal status of uncarboxylated matrix Gla protein species represents an additional mortality risk in heart failure patients with vascular disease.
Ventricular Dysfunction, Left
Epidemiological and histological findings implicate matrix Gla protein in diastolic left ventricular dysfunction.
Vitamin D Deficiency
Vitamin D Deficiency Attenuates Acute Alcohol-Induced Hepatic Lipid Accumulation in Mice.
Vitamin K Deficiency
A study about mechanisms of des-gamma-carboxy prothrombin's production in hepatocellular carcinoma.
Associations of vitamin K status with mortality and cardiovascular events in peritoneal dialysis patients.
Calciphylaxis in a dialysis patient successfully treated with high-dose vitamin K supplementation.
Calciphylaxis.
Circulating nonphosphorylated carboxylated matrix gla protein predicts survival in ESRD.
Effect of 6-Month Vitamin D Supplementation on Plasma Matrix Gla Protein in Older Adults.
Impaired vitamin K recycling in uremia is rescued by vitamin K supplementation.
Inactive matrix Gla protein is causally related to adverse health outcomes: a Mendelian randomization study in a Flemish population.
Matrix Gla protein mRNA expression in cultured type II pneumocytes.
The warfarin embryopathy: a rat model showing maxillonasal hypoplasia and other skeletal disturbances.
Treatment to reduce vascular calcification in hemodialysis patients using vitamin K (Trevasc-HDK): A study protocol for a randomized controlled trial.
Vitamin K antagonism aggravates chronic kidney disease-induced neointimal hyperplasia and calcification in arterialized veins: role of vitamin K treatment?
Vitamin K2 Dependent Matrix Gla Protein Relating to Abdominal Aortic Aneurysm and Overall Mortality: A Combined Case Control and Cohort Study.
Vitamin K2 supplementation and arterial stiffness among renal transplant recipients-a single-arm, single-center clinical trial.
Wilms Tumor
Identification of key pathways and genes in different types of chronic kidney disease based on WGCNA.