Associated Papers
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.
Yoldas Celik M et al.
European Journal of Pediatrics, 2024
Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.
Tibelius A et al.
Genes, 2023
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.
Bozaci AE et al.
Molecular Genetics and Metabolism Reports, 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
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
Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.
Gürbüz BB et al.
European Journal of Medical Genetics, 2020
Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients.
Ribeiro JV et al.
International Journal of Molecular Sciences, 2020
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
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
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 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
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
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Kölker S et al.
Pediatric Research, 2006
Riboflavin-responsive glutaryl CoA dehydrogenase deficiency.
Chalmers RA et al.
Molecular Genetics and Metabolism, 2006
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
Christensen E et al.
Journal of Inherited Metabolic Disease, 2004
Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options.
Burlina AP et al.
Journal of Inherited Metabolic Disease, 2004
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.
Tang NL et al.
Human Mutation, 2000
Mutation analysis in glutaric aciduria type I.
Zschocke J et al.
Journal of Medical Genetics, 2000