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
A novel mutation in the glutaryl-CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1.
Rayat S et al.
Clinical Case Reports, 2021
Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.
Shadmehri AA et al.
Journal of Cellular Biochemistry, 2019
A Low-Excretor Biochemical Phenotype of Glutaric Aciduria Type I: Identification of Novel Mutations in the Glutaryl CoA Dehydrogenase Gene and Review of Literature from India.
Shaik M et al.
Annals of Indian Academy of Neurology, 0
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