3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-015-9906-9.pdf
Reference3 articles.
1. Arnold GL, Koeberl DD, Matern D et al (2008) A Delphi-based consensus clinical practice protocol for the diagnosis and management of 2-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 93:363–368
2. Grünert SC, Stucki M, Morscher RJ et al (2012) 2-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis 7:31–54
3. Lam C, Carter JM, Cederbaum SD et al (2013) Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCCD) in the California newborn screening program reported in the state database. Mol Genet Metab 110:477–483
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