Associated Papers
[Unexpected death of a two-year-old child: How electron microscopy helped to identify the potential cause].
Menter T et al.
Pathologie (heidelberg, Germany), 2026
Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.
Tibelius A et al.
Genes, 2023
Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.
Barroso M et al.
International Journal of Molecular Sciences, 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
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
Schuurmans IME et al.
Journal of Inherited Metabolic Disease, 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
Lysine catabolism reprograms tumour immunity through histone crotonylation.
Yuan H et al.
Nature, 2023
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Chan OYM et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2021
Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders-a practical introductory guide.
Biswas A et al.
Translational Pediatrics, 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
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas T et al.
International Journal of Neonatal Screening, 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
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
Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene.
Peng HH et al.
Taiwanese Journal of Obstetrics & Gynecology, 2018
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.
Boy N et al.
Orphanet Journal of Rare Diseases, 2017
Glutaric AciduriaType 1: Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations.
Pirzadeh Z et al.
Iranian Journal of Child Neurology, 2017
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Schillaci LA et al.
Molecular Genetics and Metabolism, 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
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
Georgiou T et al.
Clinical Biochemistry, 2014
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
Harting I et al.
Brain : a Journal of Neurology, 2009
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
Keyser B et al.
Human Molecular Genetics, 2008
Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.
Basinger AA et al.
Molecular Genetics and Metabolism, 2006
Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramer.
Westover JB et al.
Molecular Genetics and Metabolism, 2003
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
Goodman SI et al.
Human Mutation, 1998