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
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China.
Luo H et al.
Frontiers in Genetics, 2024
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
Zhu J et al.
Peerj, 2024
Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.
Tibelius A et al.
Genes, 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
Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.
Guo Z et al.
Molecular Genetics and Genomics : Mgg, 2023
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
Schuurmans IME et al.
Journal of Inherited Metabolic Disease, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches.
Xiao B et al.
Frontiers in Genetics, 2020
Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study.
Yang Y et al.
Frontiers in Genetics, 2019
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
Promising outcomes in glutaric aciduria type I patients detected by newborn screening.
Lee CS et al.
Metabolic Brain Disease, 2013
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
Christensen E et al.
Journal of Inherited Metabolic Disease, 2004
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.
Tang NL et al.
Human Mutation, 2000
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