Associated Papers
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3
Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.
Tibelius A et al.
Genes, 2023
38137040 (PubMed )
Supplement: genes-14-02218-s001.zip › genes-2754842-supplementary.xlsx › S3
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
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
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome.
Boneh A et al.
Molecular Genetics and Metabolism, 2008
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
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
Christensen E et al.
Journal of Inherited Metabolic Disease, 2004
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
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