Associated Papers
Deeper Than the Metabolite: A Novel Genetic Mutation in an Indian Child With Glutaric Aciduria Type 1.
Srivastava P et al.
Cureus, 2025
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 › S4
Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.
Qian GL et al.
World Journal of Pediatrics : Wjp, 2016
Outcome of three cases of untreated maternal glutaric aciduria type I.
Garcia P et al.
European Journal of Pediatrics, 2008
Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
Busquets C et al.
Molecular Genetics and Metabolism, 2000
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