Associated Papers
Delayed Diagnosis of Glutaric Aciduria Type 1: A Case Report.
Larancuent CE et al.
Cureus, 2025
Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails.
Gragnaniello V et al.
Italian Journal of Pediatrics, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Glutaric Aciduria Presenting With an Acute Encephalitic Crisis: A Case Report.
Patil MG et al.
Cureus, 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
Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.
Barroso M et al.
International Journal of Molecular Sciences, 2023
Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.
Guo Z et al.
Molecular Genetics and Genomics : Mgg, 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
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
Guenzel AJ et al.
Jimd Reports, 2021
Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma.
Foran J et al.
Jimd Reports, 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
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
Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance.
Ribeiro JV et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 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
Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I.
Tp KV et al.
Journal of Pediatric Genetics, 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
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
The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.
Del Rizzo M et al.
European Journal of Pediatrics, 2016
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
Radha Rama Devi A et al.
Brain & Development, 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
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.
Fraidakis MJ et al.
Jimd Reports, 2015
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.
Gupta N et al.
Jimd Reports, 2015
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
Marti-Masso JF et al.
Human Genetics, 2012
The use of next-generation sequencing in movement disorders.
Krebs CE et al.
Frontiers in Genetics, 2012
Use of guidelines improves the neurological outcome in glutaric aciduria type I.
Heringer J et al.
Annals of Neurology, 2010
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
Keyser B et al.
Human Molecular Genetics, 2008
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Kölker S et al.
Pediatric Research, 2006
Glutaric acidemia type 1.
Hedlund GL et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2006
Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.
Gallagher RC et al.
Molecular Genetics and Metabolism, 2005
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
Christensen E et al.
Journal of Inherited Metabolic Disease, 2004
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
Mühlhausen C et al.
Journal of Inherited Metabolic Disease, 2003
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Busquets C et al.
Pediatric Research, 2000
Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity.
Pineda M et al.
Developmental Medicine and Child Neurology, 1998
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
Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.
Christensen E et al.
Journal of Inherited Metabolic Disease, 1997