Associated Papers
Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.
Lin Y et al.
Scientific Reports, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Phenotypic and Genotypic Characteristics of Adult-Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review.
Wei L et al.
Brain and Behavior, 2025
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
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
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
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
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
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
[Detection of GCDH mutations in five Chinese patients with glutaric acidemia type I].
Lin Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
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 molecular investigation in Chinese patients with glutaric aciduria type I.
Zhang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
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
Promising outcomes in glutaric aciduria type I patients detected by newborn screening.
Lee CS et al.
Metabolic Brain Disease, 2013
Early detection of glutaric aciduria type I by newborn screening in Taiwan.
Hsieh CT et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2008