Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

Genetics and genomic medicine in Israel

(2014) Joël Zlotogora   Molecular Genetics & Genomic Medicine

Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database

(2013) Christina Lam et al.   MOLECULAR GENETICS AND METABOLISM

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency

(2012) Raphael J. Morscher et al.   MOLECULAR GENETICS AND METABOLISM

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening

(2012) Georgianne L. Arnold et al.   MOLECULAR GENETICS AND METABOLISM

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

(2012) Sarah C Grünert et al.   Orphanet Journal of Rare Diseases

Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations

(2011) Chang-Woo Jung et al.   JOURNAL OF HUMAN GENETICS

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency

(2007) Georgianne L. Arnold et al.   MOLECULAR GENETICS AND METABOLISM