Associated Papers
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
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
Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.
Desviat LR et al.
Molecular Genetics and Metabolism, 2003
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
Gallardo ME et al.
American Journal of Human Genetics, 2001
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