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EC Number Application Commentary Reference
Show all pathways known for 1.1.99.2Display the word mapDisplay the reaction diagram Show all sequences 1.1.99.2medicine an enzyme assay for the determination of L-2-hydroxyglutarate dehydrogenase activity in cells derived from L-2-hydroxyglutaric aciduria patients is developed and implemented 699377
Show all pathways known for 1.1.99.2Display the word mapDisplay the reaction diagram Show all sequences 1.1.99.2medicine L-2-hydroxyglutaric aciduria is a neurometabolic disorder that produces a variety of clinical neurological deficits, mutations within the gene L2HGDH encoding L-2-hydroxyglutaric acid dehydrogenase causes the disease, the canine model shares many of the clinical features of the disease in humans and represents a valuable resource as a spontaneous model of L-2-hydroxyglutaric aciduria 688297
Show all pathways known for 1.1.99.2Display the word mapDisplay the reaction diagram Show all sequences 1.1.99.2medicine L-2-hydroxyglutaric aciduria is a rare autosomal recessive neurometabolic organic aciduria, case report, mutation analysis and measurement of L-2-hydroxyglutaric acid in the amniotic fluid is used for prenatal diagnosis of the disease 689015
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