Associated Papers
Clinical and neuroradiologic spectrum of glutaric acidemia type 1 in children: insights from a retrospective cohort in Guangdong Province, China.
Zheng H et al.
Quantitative Imaging in Medicine and Surgery, 2026
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review.
Chen Y et al.
Molecular Genetics and Metabolism Reports, 2024
Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.
Tibelius A et al.
Genes, 2023
Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.
Zhou J et al.
Orphanet Journal of Rare Diseases, 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
Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China.
Lin Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Zhang R et al.
Scientific Reports, 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
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
Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.
Zhang X et al.
Experimental and Therapeutic Medicine, 2017
Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.
Qian GL et al.
World Journal of Pediatrics : Wjp, 2016
[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].
Wang Q et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016
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 mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
Wang Q et al.
Brain & Development, 2014
[Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].
Wang Q et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.
Couce ML et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013
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
Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I.
Ikeda H et al.
American Journal of Medical 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
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
Anikster Y et al.
American Journal of Human Genetics, 1996