D-2-hydroxyglutaric aciduria: A case wit
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Clarke, Nigel F. ;Andrews, Ian ;Carpenter, Kevin ;Jakobs, Cornelis ;van der Knaa
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Article
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2003
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John Wiley and Sons
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English
β 137 KB
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D-2-hydroxyglutaric aciduria (D2HGA) is a rare autosomal recessive disorder with variable clinical expression. The biochemical defect is unknown at present. Previously reported cases have either followed a severe clinical course characterized by neonatal epileptic encephalopathy, cortical blindness,