Associated Papers
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 › S1
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
Schuurmans IME et al.
Journal of Inherited Metabolic Disease, 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
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