Any feedback?
Please rate this page
(enzyme.php)
(0/150)

BRENDA support

Disease on EC 6.4.1.4 - methylcrotonoyl-CoA carboxylase

Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
acetyl-coa c-acetyltransferase deficiency
Screening for defects of branched-chain amino acid metabolism.
acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Adenoma
Quantification of proliferative activity in colorectal adenomas by mitotic counts: relationship to degree of dysplasia and histological type.
Anaphylaxis
Inhibitory Activities of Compounds from the Marine Actinomycete Williamsia sp. MCCC 1A11233 Variant on IgE-Mediated Mast Cells and Passive Cutaneous Anaphylaxis.
Biotinidase Deficiency
The management and long term outcome of organic acidaemias.
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Brain Diseases
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.
Breast Neoplasms
Methylcrotonoyl-CoA carboxylase 2 overexpression predicts an unfavorable prognosis and promotes cell proliferation in breast cancer.
Canavan Disease
Qualitative urinary organic acid analysis: methodological approaches and performance.
carbonic anhydrase deficiency
Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood.
Cardiomyopathies
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father.
carnitine o-palmitoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Cerebral Palsy
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl.
Citrullinemia
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Diabetes Mellitus
Difficulties in the dietary management of a girl with two diseases requiring a special diet.
Diabetes Mellitus, Type 2
Expression, purification, characterization of human 3-methylcrotonyl-CoA carboxylase (MCCC).
Galactosemias
[Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico]
Homocystinuria
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]
[Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico]
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
hydroxymethylglutaryl-coa lyase deficiency
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.
Screening for defects of branched-chain amino acid metabolism.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Application of tandem mass spectrometry in diagnosis of organic acidemias]
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Hyperargininemia
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
Insulin Resistance
SIRT4 Is a Regulator of Insulin Secretion.
isovaleryl-coa dehydrogenase deficiency
Screening for defects of branched-chain amino acid metabolism.
long-chain acyl-coa dehydrogenase deficiency
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Lymphatic Metastasis
Methylcrotonoyl-CoA Carboxylase 2 Promotes Proliferation, Migration and Invasion and Inhibits Apoptosis of Prostate Cancer Cells Through Regulating GLUD1-P38 MAPK Signaling Pathway.
Maple Syrup Urine Disease
An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease.
Qualitative urinary organic acid analysis: 10 years of quality assurance.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
The management and long term outcome of organic acidaemias.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
medium-chain acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Metabolic Diseases
3-Methylcrotonylglycine Disrupts Mitochondrial Energy Homeostasis and Inhibits Synaptic Na(+),K (+)-ATPase Activity in Brain of Young Rats.
A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress.
Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression.
Metabolism, Inborn Errors
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.
methylcrotonoyl-coa carboxylase deficiency
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis.
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father.
3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome.
3-Methylcrotonyl-CoA Carboxylase Deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals.
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening.
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.
3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?
3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.
3-Methylcrotonylglycine Disrupts Mitochondrial Energy Homeostasis and Inhibits Synaptic Na(+),K (+)-ATPase Activity in Brain of Young Rats.
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease.
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency.
Beta-methylcrotonyl-CoA carboxylase deficiency: a new metabolic error in leucine degradation.
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl.
Biotin-reversible neurodegenerative disease in infancy.
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.
Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan.
Difficulties in the dietary management of a girl with two diseases requiring a special diet.
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency.
Establishing gas chromatography-mass spectrometry to diagnose organic acidemias in Thailand.
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.
Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency.
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency.
Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression.
Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome.
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl.
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child.
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness.
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.
Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome.
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay.
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.
Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk.
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.
Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats.
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Next generation sequencing as a follow-up test in an expanded newborn screening programme.
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure.
Potential Misdiagnosis of 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Associated With Absent or Trace Urinary 3-Methylcrotonylglycine.
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
Qualitative urinary organic acid analysis: 10 years of quality assurance.
Qualitative urinary organic acid analysis: methodological approaches and performance.
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency.
Screening for defects of branched-chain amino acid metabolism.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.
Tandem mass neonatal screening in Taiwan--report from one center.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
The management and long term outcome of organic acidaemias.
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
Two Novel Heterozygous MCCC1 Mutations in a Neonate with Asymptomatic 3-methylcrotonyl-coenzyme A Carboxylase Deficiency.
Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.
[3-Methylcrotonyl-CoA carboxylase deficiency]
[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency].
[Analysis of MCCC2 gene variant in a pedigree affected with 3-methylcrotonyl coenzyme A carboxylase deficiency].
[Application of tandem mass spectrometry in diagnosis of organic acidemias]
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency.]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico]
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening].
[Methylcrotonyl-CoA carboxylase deficiency]
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
methylglutaconyl-coa hydratase deficiency
Screening for defects of branched-chain amino acid metabolism.
Mevalonate Kinase Deficiency
Qualitative urinary organic acid analysis: methodological approaches and performance.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Qualitative urinary organic acid analysis: methodological approaches and performance.
[Application of tandem mass spectrometry in diagnosis of organic acidemias]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Multiple Carboxylase Deficiency
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
Multiple carboxylase deficiency.
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Multiple Sclerosis
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis.
Muscle Hypotonia
Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.
Myalgia
Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult.
n-acyl-aliphatic-l-amino acid amidohydrolase deficiency
Qualitative urinary organic acid analysis: 10 years of quality assurance.
Neoplasm Metastasis
Methylcrotonoyl-CoA Carboxylase 2 Promotes Proliferation, Migration and Invasion and Inhibits Apoptosis of Prostate Cancer Cells Through Regulating GLUD1-P38 MAPK Signaling Pathway.
Neoplasms
Diversity analysis of 14 156 molecules tested by the National Cancer Institute for anti-HIV activity using the quantitative structure-activity relational expert system MCASE.
MCCC2 overexpression predicts poorer prognosis and promotes cell proliferation in colorectal cancer.
MCCC2 promotes HCC development by supporting leucine oncogenic function.
Methylcrotonoyl-CoA carboxylase 2 overexpression predicts an unfavorable prognosis and promotes cell proliferation in breast cancer.
pH triggered re-assembly of nanosphere to nanofiber: The role of peptide conformational change for enhanced cancer therapy.
Obesity
Expression, purification, characterization of human 3-methylcrotonyl-CoA carboxylase (MCCC).
ornithine carbamoyltransferase 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]
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]
pantoate-beta-alanine ligase (amp-forming) deficiency
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].
Parkinson Disease
An MCASE approach to the search of a cure for Parkinson's Disease.
Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry.
peptidyl-glutamate 4-carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening.
3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease.
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency.
Establishing gas chromatography-mass spectrometry to diagnose organic acidemias in Thailand.
Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.
Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk.
Multiple carboxylase deficiency.
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Potential Misdiagnosis of 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Associated With Absent or Trace Urinary 3-Methylcrotonylglycine.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass neonatal screening in Taiwan--report from one center.
The management and long term outcome of organic acidaemias.
Two Novel Heterozygous MCCC1 Mutations in a Neonate with Asymptomatic 3-methylcrotonyl-coenzyme A Carboxylase Deficiency.
Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.
[Analysis of MCCC2 gene variant in a pedigree affected with 3-methylcrotonyl coenzyme A carboxylase deficiency].
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency.]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico]
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening].
Phenylketonurias
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Propionic Acidemia
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Establishing gas chromatography-mass spectrometry to diagnose organic acidemias in Thailand.
Qualitative urinary organic acid analysis: methodological approaches and performance.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
[Application of tandem mass spectrometry in diagnosis of organic acidemias]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Prostatic Neoplasms
Methylcrotonoyl-CoA Carboxylase 2 Promotes Proliferation, Migration and Invasion and Inhibits Apoptosis of Prostate Cancer Cells Through Regulating GLUD1-P38 MAPK Signaling Pathway.
Respiratory Insufficiency
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure.
Seizures
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
short-chain 2-methylacyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
short-chain acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Starvation
Induction of beta-methylcrotonyl-coenzyme A carboxylase in higher plant cells during carbohydrate starvation: evidence for a role of MCCase in leucine catabolism.
Status Epilepticus
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency.
Stroke
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.
Tyrosinemias
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico]
very-long-chain acyl-coa dehydrogenase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]