Associated Papers
An acute life-threatening episode of rhabdomyolysis, renal failure, altered mental status and hyperammonemia in an adult with 3-methylcrotonyl-CoA carboxylase deficiency.
McGowan R et al.
Molecular Genetics and Metabolism Reports, 2024
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
Rips J et al.
Journal of Inherited Metabolic Disease, 2016
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Shepard PJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert SC et al.
Orphanet Journal of Rare Diseases, 2012
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Stadler SC et al.
Human Mutation, 2006
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
Dantas MF et al.
Human Mutation, 2005
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