Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China.
Luo H et al.
Frontiers in Genetics, 2024
Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.
Tibelius A et al.
Genes, 2023
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.
Bozaci AE et al.
Molecular Genetics and Metabolism Reports, 2023
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2023
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.
Kılavuz S et al.
Neuropediatrics, 2021
Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.
E H et al.
Frontiers in Genetics, 2021
Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients.
Ribeiro JV et al.
International Journal of Molecular Sciences, 2020
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.
Zayed H et al.
Metabolic Brain Disease, 2019
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.
Mosaeilhy A et al.
Metabolic Brain Disease, 2017
Reversible brain atrophy in glutaric aciduria type 1.
Numata-Uematsu Y et al.
Brain & Development, 2017
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
Zhang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.
Mushimoto Y et al.
Molecular Genetics and Metabolism, 2011
Glutaric aciduria type 1 in Korea: report of two novel mutations.
Park JD et al.
Journal of Korean Medical Science, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Riboflavin-responsive glutaryl CoA dehydrogenase deficiency.
Chalmers RA et al.
Molecular Genetics and Metabolism, 2006
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 mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
Goodman SI et al.
Human Mutation, 1998