Associated Papers
Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.
Tibelius A et al.
Genes, 2023
38137040 (PubMed )
Supplement: genes-14-02218-s001.zip › genes-2754842-supplementary.xlsx › S4
Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.
Barroso M et al.
International Journal of Molecular Sciences, 2023
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data.
Yuan Y et al.
Journal of Inherited Metabolic Disease, 2023
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.
Gelener P et al.
Neurogenetics, 2020
Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.
Schmiesing J et al.
Human Molecular Genetics, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Rare presentation of a treatable disorder: glutaric aciduria type 1.
Badve MS et al.
The New Zealand Medical Journal, 2015
Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramer.
Westover JB et al.
Molecular Genetics and Metabolism, 2003
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
Schwartz M et al.
Human Genetics, 1998
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
Goodman SI et al.
Human Mutation, 1998
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