L-2-hydroxyglutaric aciduria: novel mutations in the L-2-hydroxyglutarate dehydrogenase gene
2005
L-2-HGA is a rare autosomal recessive neurrometabolic disorder, which was recently described to be caused by mutations in the L-2-HGA gene. WE therefore investigated if this gene caused the disease in 20 unrelated families (24 patients.
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