Associated Papers
A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress.
Zandberg L et al.
The International Journal of Biochemistry & Cell Biology, 2016
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.
Forsyth R et al.
Molecular Genetics and Metabolism, 2016
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert SC et al.
Orphanet Journal of Rare Diseases, 2012
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
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
Baumgartner MR et al.
The Journal of Clinical Investigation, 2001
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