Associated Papers
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
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