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
Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.
Lin Y et al.
Scientific Reports, 2025
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
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim MJ et al.
Annals of Laboratory Medicine, 2023
A retrospective analysis of MS/MS screening for IEM in high-risk areas.
He X et al.
Bmc Medical Genomics, 2023
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
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
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
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
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
Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.
Bähr O et al.
Neurology, 2002
Identification of a susceptibility locus for migraine with and without aura on 6p12.2-p21.1.
Carlsson A et al.
Neurology, 2002
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Busquets C et al.
Pediatric Research, 2000
Mutation analysis in glutaric aciduria type I.
Zschocke J et al.
Journal of Medical Genetics, 2000