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 › S1
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
Schuurmans IME et al.
Journal of Inherited Metabolic Disease, 2023
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
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
Christensen E et al.
Journal of Inherited Metabolic Disease, 2004
Mutation analysis in glutaric aciduria type I.
Zschocke J et al.
Journal of Medical Genetics, 2000
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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