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

✍ Scribed by M. Kranendijk; G. S. Salomons; K. M. Gibson; C. Aktuglu-Zeybek; S. Bekri; E. Christensen; J. Clarke; A. Hahn; S. H. Korman; V. Mejaski-Bosnjak; A. Superti-Furga; C. Vianey-Saban; M. S. van der Knaap; C. Jakobs; E. A. Struys

Publisher: Springer
Year: 2009
Tongue: English
Weight: 206 KB
Volume: 32
Category: Article
ISSN: 0141-8955
DOI: 10.1007/s10545-009-1282-x

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We studied 21 patients, from 18 families, with L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and cerebellar signs, seizures, and subcortical leukoencephalopathy. Increased levels of L-2-hydrox