Condition: D-2-HYDROXYGLUTARIC ACIDURIA 1
rs121434360
in
D2HGDH
gene and
D-2-HYDROXYGLUTARIC ACIDURIA 1
PMID 15609246
2005 Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
PMID 16081310
2006 Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.
PMID 16037974
2005 Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
PMID 20020533
2010 Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
PMID 21384162
2011 Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria.