Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
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
Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.
Barroso M et al.
International Journal of Molecular Sciences, 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
Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.
Healy L et al.
Jimd Reports, 2022
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.
Kılavuz S et al.
Neuropediatrics, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
A novel mutation in the glutaryl-CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1.
Rayat S et al.
Clinical Case Reports, 2021
Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.
Kurkina MV et al.
Metabolic Brain Disease, 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
Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1.
Boy N et al.
Journal of Inherited Metabolic Disease, 2018
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Boy N et al.
Annals of Neurology, 2018
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
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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
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
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
Georgiou T et al.
Clinical Biochemistry, 2014
Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.
Mushimoto Y et al.
Molecular Genetics and Metabolism, 2011
Use of guidelines improves the neurological outcome in glutaric aciduria type I.
Heringer J et al.
Annals of Neurology, 2010
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
Harting I et al.
Brain : a Journal of Neurology, 2009
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.
Kölker S et al.
Pediatric Research, 2007
Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
Kölker S et al.
Annals of Neurology, 2004
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
Christensen E et al.
Journal of Inherited Metabolic Disease, 2004
Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency.
Kölker S et al.
Journal of Inherited Metabolic Disease, 2004
Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.
Kölker S et al.
The Journal of Pediatrics, 2001
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.
Tang NL et al.
Human Mutation, 2000
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
Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.
Nyhan WL et al.
Molecular Genetics and Metabolism, 1999
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
Goodman SI et al.
Human Mutation, 1998
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
Andresen BS et al.
Human Molecular Genetics, 1997