Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Ou MM et al.
Frontiers in Pediatrics, 2025
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 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
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data.
Yuan Y et al.
Journal of Inherited Metabolic Disease, 2023
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32.
Spenger J et al.
International Journal of Neonatal Screening, 2021
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
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
Spenger J et al.
International Journal of Neonatal Screening, 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
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.
Mosaeilhy A et al.
Metabolic Brain Disease, 2017
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
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.
Gupta N et al.
Jimd Reports, 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
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 I: outcome following detection by newborn screening.
Bijarnia S et al.
Journal of Inherited Metabolic Disease, 2008
Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein.
O'Reilly LP et al.
The Febs Journal, 2005
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
Christensen E et al.
Journal of Inherited Metabolic Disease, 2004
Mutation analysis in glutaric aciduria type I.
Zschocke J et al.
Journal of Medical Genetics, 2000
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
Schwartz M et al.
Human 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