Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?
Ilic N et al.
Genes, 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 and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.
Lin Y et al.
Orphanet Journal of Rare Diseases, 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
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
Pokora P et al.
Metabolic Brain Disease, 2019
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
Tsai FC et al.
Journal of the Chinese Medical Association : Jcma, 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
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
Radha Rama Devi A et al.
Brain & Development, 2016
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
Bhattacharjee A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
Goodman SI et al.
Human Mutation, 1998
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.
Abdul Wahab SA et al.
Biomed Research International, 0