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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).
acyl-coa dehydrogenase deficiency
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
acyl-coa dehydrogenase deficiency
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
acyl-coa dehydrogenase deficiency
[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.
Biotinidase Deficiency
[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.
carnitine o-palmitoyltransferase deficiency
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.
Citrullinemia
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
Citrullinemia
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
Citrullinemia
[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.
Homocystinuria
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Homocystinuria
[Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico]
Homocystinuria
[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.
hydroxymethylglutaryl-coa lyase deficiency
Screening for defects of branched-chain amino acid metabolism.
hydroxymethylglutaryl-coa lyase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
hydroxymethylglutaryl-coa lyase deficiency
[Application of tandem mass spectrometry in diagnosis of organic acidemias]
hydroxymethylglutaryl-coa lyase deficiency
[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.
long-chain acyl-coa dehydrogenase deficiency
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.
Maple Syrup Urine Disease
Qualitative urinary organic acid analysis: 10 years of quality assurance.
Maple Syrup Urine Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Maple Syrup Urine Disease
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.
Maple Syrup Urine Disease
The management and long term outcome of organic acidaemias.
Maple Syrup Urine Disease
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Maple Syrup Urine Disease
[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).
medium-chain acyl-coa dehydrogenase deficiency
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.
medium-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
medium-chain acyl-coa dehydrogenase deficiency
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.
medium-chain acyl-coa dehydrogenase deficiency
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
medium-chain acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
medium-chain acyl-coa dehydrogenase deficiency
[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.
Metabolic Diseases
A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress.
Metabolic Diseases
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.
Metabolism, Inborn Errors
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
Metabolism, Inborn Errors
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.
methylcrotonoyl-coa carboxylase deficiency
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis.
methylcrotonoyl-coa carboxylase deficiency
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father.
methylcrotonoyl-coa carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
methylcrotonoyl-coa carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome.
methylcrotonoyl-coa carboxylase deficiency
3-Methylcrotonyl-CoA Carboxylase Deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals.
methylcrotonoyl-coa carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening.
methylcrotonoyl-coa carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
methylcrotonoyl-coa carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
methylcrotonoyl-coa carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.
methylcrotonoyl-coa carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?
methylcrotonoyl-coa carboxylase deficiency
3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.
methylcrotonoyl-coa carboxylase deficiency
3-Methylcrotonylglycine Disrupts Mitochondrial Energy Homeostasis and Inhibits Synaptic Na(+),K (+)-ATPase Activity in Brain of Young Rats.
methylcrotonoyl-coa carboxylase deficiency
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
methylcrotonoyl-coa carboxylase deficiency
An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease.
methylcrotonoyl-coa carboxylase deficiency
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.
methylcrotonoyl-coa carboxylase deficiency
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
methylcrotonoyl-coa carboxylase deficiency
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Beta-methylcrotonyl-CoA carboxylase deficiency: a new metabolic error in leucine degradation.
methylcrotonoyl-coa carboxylase deficiency
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl.
methylcrotonoyl-coa carboxylase deficiency
Biotin-reversible neurodegenerative disease in infancy.
methylcrotonoyl-coa carboxylase deficiency
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.
methylcrotonoyl-coa carboxylase deficiency
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan.
methylcrotonoyl-coa carboxylase deficiency
Difficulties in the dietary management of a girl with two diseases requiring a special diet.
methylcrotonoyl-coa carboxylase deficiency
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.
methylcrotonoyl-coa carboxylase deficiency
Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency.
methylcrotonoyl-coa carboxylase deficiency
Establishing gas chromatography-mass spectrometry to diagnose organic acidemias in Thailand.
methylcrotonoyl-coa carboxylase deficiency
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
methylcrotonoyl-coa carboxylase deficiency
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
methylcrotonoyl-coa carboxylase deficiency
Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency.
methylcrotonoyl-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.
methylcrotonoyl-coa carboxylase deficiency
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.
methylcrotonoyl-coa carboxylase deficiency
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?
methylcrotonoyl-coa carboxylase deficiency
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.
methylcrotonoyl-coa carboxylase deficiency
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl.
methylcrotonoyl-coa carboxylase deficiency
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child.
methylcrotonoyl-coa carboxylase deficiency
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
methylcrotonoyl-coa carboxylase deficiency
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
methylcrotonoyl-coa carboxylase deficiency
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.
methylcrotonoyl-coa carboxylase deficiency
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.
methylcrotonoyl-coa carboxylase deficiency
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness.
methylcrotonoyl-coa carboxylase deficiency
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.
methylcrotonoyl-coa carboxylase deficiency
Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome.
methylcrotonoyl-coa carboxylase deficiency
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay.
methylcrotonoyl-coa carboxylase deficiency
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk.
methylcrotonoyl-coa carboxylase deficiency
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
methylcrotonoyl-coa carboxylase deficiency
Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats.
methylcrotonoyl-coa carboxylase deficiency
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
methylcrotonoyl-coa carboxylase deficiency
Next generation sequencing as a follow-up test in an expanded newborn screening programme.
methylcrotonoyl-coa carboxylase deficiency
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure.
methylcrotonoyl-coa carboxylase deficiency
Potential Misdiagnosis of 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Associated With Absent or Trace Urinary 3-Methylcrotonylglycine.
methylcrotonoyl-coa carboxylase deficiency
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
methylcrotonoyl-coa carboxylase deficiency
Qualitative urinary organic acid analysis: 10 years of quality assurance.
methylcrotonoyl-coa carboxylase deficiency
Qualitative urinary organic acid analysis: methodological approaches and performance.
methylcrotonoyl-coa carboxylase deficiency
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Screening for defects of branched-chain amino acid metabolism.
methylcrotonoyl-coa carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
methylcrotonoyl-coa carboxylase deficiency
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.
methylcrotonoyl-coa carboxylase deficiency
Tandem mass neonatal screening in Taiwan--report from one center.
methylcrotonoyl-coa carboxylase deficiency
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.
methylcrotonoyl-coa carboxylase deficiency
The management and long term outcome of organic acidaemias.
methylcrotonoyl-coa carboxylase deficiency
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
methylcrotonoyl-coa carboxylase deficiency
Two Novel Heterozygous MCCC1 Mutations in a Neonate with Asymptomatic 3-methylcrotonyl-coenzyme A Carboxylase Deficiency.
methylcrotonoyl-coa carboxylase deficiency
Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.
methylcrotonoyl-coa carboxylase deficiency
[3-Methylcrotonyl-CoA carboxylase deficiency]
methylcrotonoyl-coa carboxylase deficiency
[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency].
methylcrotonoyl-coa carboxylase deficiency
[Analysis of MCCC2 gene variant in a pedigree affected with 3-methylcrotonyl coenzyme A carboxylase deficiency].
methylcrotonoyl-coa carboxylase deficiency
[Application of tandem mass spectrometry in diagnosis of organic acidemias]
methylcrotonoyl-coa carboxylase deficiency
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency.]
methylcrotonoyl-coa carboxylase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
methylcrotonoyl-coa carboxylase deficiency
[Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico]
methylcrotonoyl-coa carboxylase deficiency
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening].
methylcrotonoyl-coa carboxylase deficiency
[Methylcrotonyl-CoA carboxylase deficiency]
methylcrotonoyl-coa carboxylase deficiency
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].
methylcrotonoyl-coa carboxylase deficiency
[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).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Qualitative urinary organic acid analysis: methodological approaches and performance.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Application of tandem mass spectrometry in diagnosis of organic acidemias]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[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.
Multiple Carboxylase Deficiency
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
Multiple Carboxylase Deficiency
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
Multiple Carboxylase Deficiency
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.
Neoplasms
MCCC2 overexpression predicts poorer prognosis and promotes cell proliferation in colorectal cancer.
Neoplasms
MCCC2 promotes HCC development by supporting leucine oncogenic function.
Neoplasms
Methylcrotonoyl-CoA carboxylase 2 overexpression predicts an unfavorable prognosis and promotes cell proliferation in breast cancer.
Neoplasms
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.
ornithine carbamoyltransferase deficiency
[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.
Ornithine Carbamoyltransferase Deficiency Disease
[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.
Parkinson 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.
peptidyl-glutamate 4-carboxylase deficiency
3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.
peptidyl-glutamate 4-carboxylase deficiency
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease.
peptidyl-glutamate 4-carboxylase deficiency
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
peptidyl-glutamate 4-carboxylase deficiency
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
peptidyl-glutamate 4-carboxylase deficiency
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Establishing gas chromatography-mass spectrometry to diagnose organic acidemias in Thailand.
peptidyl-glutamate 4-carboxylase deficiency
Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
peptidyl-glutamate 4-carboxylase deficiency
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.
peptidyl-glutamate 4-carboxylase deficiency
Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk.
peptidyl-glutamate 4-carboxylase deficiency
Multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
peptidyl-glutamate 4-carboxylase deficiency
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
peptidyl-glutamate 4-carboxylase deficiency
Potential Misdiagnosis of 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Associated With Absent or Trace Urinary 3-Methylcrotonylglycine.
peptidyl-glutamate 4-carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
peptidyl-glutamate 4-carboxylase deficiency
Tandem mass neonatal screening in Taiwan--report from one center.
peptidyl-glutamate 4-carboxylase deficiency
The management and long term outcome of organic acidaemias.
peptidyl-glutamate 4-carboxylase deficiency
Two Novel Heterozygous MCCC1 Mutations in a Neonate with Asymptomatic 3-methylcrotonyl-coenzyme A Carboxylase Deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
[Analysis of MCCC2 gene variant in a pedigree affected with 3-methylcrotonyl coenzyme A carboxylase deficiency].
peptidyl-glutamate 4-carboxylase deficiency
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency.]
peptidyl-glutamate 4-carboxylase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
peptidyl-glutamate 4-carboxylase deficiency
[Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico]
peptidyl-glutamate 4-carboxylase deficiency
[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.
Phenylketonurias
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Phenylketonurias
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).
Propionic Acidemia
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.
Propionic Acidemia
Establishing gas chromatography-mass spectrometry to diagnose organic acidemias in Thailand.
Propionic Acidemia
Qualitative urinary organic acid analysis: methodological approaches and performance.
Propionic Acidemia
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
[Application of tandem mass spectrometry in diagnosis of organic acidemias]
Propionic Acidemia
[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).
short-chain acyl-coa dehydrogenase deficiency
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
short-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
short-chain acyl-coa dehydrogenase deficiency
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.
short-chain acyl-coa dehydrogenase deficiency
[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.
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]
Tyrosinemias
[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]
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6.4.1.4 methylcrotonoyl-CoA carboxylase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
