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D-2-Hydroxyglutaric aciduria (D 2-HGA): A possible diagnosis in neonatal encephalopathy

✍ Scribed by H. Vallance; C. Jakobs; K. Selby

Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
117 KB
Volume
28
Category
Article
ISSN
0009-9120

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We performed molecular, enzyme, and metabolic studies in 50 patients with D-2-hydroxyglutaric aciduria (D-2-HGA) who accumulated D-2-hydroxyglutarate (D-2-HG) in physiological fluids. Presumed pathogenic mutations were detected in 24 of 50 patients in the D-2-hydroxyglutarate dehydrogenase (D2HGDH)