Disease-related Metabolites in Culture Medium of Fibroblasts from Patients with d-2-Hydroxyglutaric Aciduria, l-2-Hydroxyglutaric Aciduria, and Combined d/l-2-Hydroxyglutaric Aciduria | Zendy

Eduard A. Struys | Zendy; Nanda M. Verhoeven | Zendy; Birthe Roos | Zendy; Cornelis Jakobs | Zendy

Open Access

Disease-related Metabolites in Culture Medium of Fibroblasts from Patients with d-2-Hydroxyglutaric Aciduria, l-2-Hydroxyglutaric Aciduria, and Combined d/l-2-Hydroxyglutaric Aciduria

Author(s) -

Eduard A. Struys,

Nanda M. Verhoeven,

Birthe Roos,

Cornelis Jakobs

Publication year - 2003

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/49.7.1133

Subject(s) - glutamine , cell culture , chemistry , incubation , fibroblast , microbiology and biotechnology , biochemistry , amino acid , in vitro , biology , genetics

D-2-Hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and the combined D/L-2-hydroxyglutaric aciduria (D/L-2-HGA) are poorly understood organic acidurias. To investigate the usefulness of cultured human skin fibroblasts for both diagnostic and research purposes, we measured disease-related metabolites in the cell culture medium.

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