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Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria

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  1. Article

    Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM

    B. Fowler, A. Burlina, V. Kožich, C. Vianey-Saban in Journal of Inherited Metabolic Disease (2009)

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