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

Author： Kranendijk M.   Salomons G.   Gibson K.   Aktuglu-Zeybek C.   Bekri S.   Christensen E.   Clarke J.   Hahn A.   Korman S.   Mejaski-Bosnjak V.   Superti-Furga A.   Vianey-Saban C.   Knaap M.   Jakobs C.   Struys E.  

Publisher： Springer Publishing Company

ISSN： 0141-8955

Source： Journal of Inherited Metabolic Disease, Vol.32, Iss.6, 2009-12, pp. : 713-719

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