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D-2-hydroxyglutaric aciduria: Case report and biochemical studies

✍ Scribed by R. A. Chalmers; A. M. Lawson; R. W. E. Watts; A. S. Tavill; J. P. Kamerling; E. Hey; D. Ogilvie


Publisher
Springer
Year
1980
Tongue
English
Weight
393 KB
Volume
3
Category
Article
ISSN
0141-8955

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## Abstract D‐2‐hydroxyglutaric aciduria is a neurometabolic disorder with mild and severe phenotypes. Recently, we reported pathogenic mutations in the __D__‐__2__‐__hydroxyglutarate dehydrogenase__ gene as the cause of the severe phenotype of D‐2‐hydroxyglutaric aciduria in two patients. Here, we

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