Associated Papers
Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.
Xie Y et al.
Bmc Medical Genomics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.
Xiao G et al.
Frontiers in Genetics, 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
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
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
2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2023
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
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
African genetic diversity and adaptation inform a precision medicine agenda.
Pereira L et al.
Nature Reviews. Genetics, 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
Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.
Sitta A et al.
Metabolic Brain Disease, 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
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report.
Heathfield LJ et al.
International Journal of Legal Medicine, 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
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human Genetics, 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
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
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D et al.
Plos One, 2016
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
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
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
Georgiou T et al.
Clinical Biochemistry, 2014
An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1.
Moore T et al.
Journal of Inherited Metabolic Disease, 2012
Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.
Korman SH et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2007
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Kölker S et al.
Pediatric Research, 2006
Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1.
Kyllerman M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2004
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
Biochemical and molecular diagnosis of glutaric aciduria type 1 in a black South African male child: case report.
Ojwang PJ et al.
East African Medical Journal, 2001
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
Galactosaemia in black South African children.
Ojwang PJ et al.
East African Medical Journal, 1999
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
Goodman SI et al.
Human Mutation, 1998
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
Anikster Y et al.
American Journal of Human Genetics, 1996
[In utero macrocephaly as clinical manifestation of glutaric aciduria type I. Report of a novel mutation].
Mahfoud A et al.
Revista De Neurologia, 0