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2-hydroxyglutaric aciduria
2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.
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D,L-2-hydroxyglutaric aciduria 1 trial
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D-2-hydroxyglutaric aciduria 0 trials Sub-types →
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L-2-hydroxyglutaric aciduria 0 trials