Disease: 3-methylcrotonyl-CoA carboxylase deficiency
- 3-methylcrotonyl Coenzyme A (CoA) carboxylase complex is involved in the Xanthomonas citri subsp. citri lifestyle during citrus infection
- 3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis
- 3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
- 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-CoA carboxylase deficiency. A long-term outcome
- 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
- A Case of Increased C5-OH Acylcarnitine
- A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency
- A novel compound heterozygous mutation causing 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
- A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns
- A Unique Presentation of 3-Methylcrotonyl-CoA Carboxylase Deficiency
- Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)
- Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)
- An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test
- An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening
- An unanticipated architecture of the 750-kDa α6β6 holoenzyme of 3-methylcrotonyl-CoA carboxylase
- Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database
- Analysis of MCCC2 gene variant in a pedigree affected with 3-methylcrotonyl coenzyme A carboxylase deficiency
- Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency
- Application of tandem mass spectrometry in diagnosis of organic acidemias
- Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test
- Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl
- Biotin Deficiency
- Biotin requirements are lower in human Jurkat lymphoid cells but homeostatic mechanisms are similar to those of HepG2 liver cells
- Biotinidase Deficiency
- Brain magnetic resonance imaging and proton MR spectroscopic findings after metabolic crisis in 3-methylcrotonylglycinuria
- Clinical and genetic features of children with 3-methylcrotonyl-coenzyme A carboxylase deficiency: an analysis of six cases
- Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency
- Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome
- Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD
- Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency
- Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase
- Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan
- Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry
- Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
- Difficulties in the dietary management of a girl with two diseases requiring a special diet
- Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids
- Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV)
- 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 C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency
- Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico
- Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population
- Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in <em>MCCC1</em> and <em>GNB5</em> Causing Overlapping Phenotypes
- Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening
- Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency
- Holocarboxylase synthetase deficiency pre and post newborn screening
- Identification and assessment of markers of biotin status in healthy adults
- Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency
- Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase Deficiency
- Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?
- Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy
- Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease
- Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening
- Metabolic heritability at birth: implications for chronic disease research
- Metabolic profiling of infant urine using comprehensive two-dimensional gas chromatography: Application to the diagnosis of organic acidurias and biomarker discovery
- Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease
- Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood
- Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency
- Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures
- 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 in Zhejiang province, China
- Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
- Newborn Screening for Inborn Errors of Metabolism [Internet]
- 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
- Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria
- Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening
- Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System
- Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
- 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
- Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles"
- Quantitative measurement of plasma 3-hydroxyisovaleryl carnitine by LC-MS/MS as a novel biomarker of biotin status in humans
- Quantitative measurement of urinary excretion of 3-hydroxyisovaleryl carnitine by LC-MS/MS as an indicator of biotin status in humans
- Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases
- Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency
- Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China
- Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia
- Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up
- 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
- Structure and function of biotin-dependent carboxylases
- Surgical Repair of Atrial Septal Defect in a Patient with 3-Methylcrotonyl-CoA Carboxylase Deficiency
- Tandem mass neonatal screening in Taiwan--report from one center
- The advisory report 'Neonatal screening' from the Health Council of The Netherlands
- 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
- Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations
- Urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxyisovaleryl carnitine increases in response to a leucine challenge in marginally biotin-deficient humans
- Web-based newborn screening system for metabolic diseases: machine learning versus clinicians