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
Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.
Barroso M et al.
International Journal of Molecular Sciences, 2023
Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1.
Tamhankar PM et al.
Journal of Pediatric Genetics, 2021
Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.
Sitta A et al.
Metabolic Brain Disease, 2021
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.
Gelener P et al.
Neurogenetics, 2020
Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient
Alaei MR et al.
Iranian Biomedical Journal, 2020
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.
Zayed H et al.
Metabolic Brain Disease, 2019
Glutaric AciduriaType 1: Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations.
Pirzadeh Z et al.
Iranian Journal of Child Neurology, 2017
Rare presentation of a treatable disorder: glutaric aciduria type 1.
Badve MS et al.
The New Zealand Medical Journal, 2015
Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.
Mushimoto Y et al.
Molecular Genetics and Metabolism, 2011
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
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Busquets C et al.
Pediatric Research, 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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