Central nervous system malformations in
โ
Nowaczyk, M.J.M.; Blaser, S.I.; Clarke, J.T.R.
๐
Article
๐
1998
๐
John Wiley and Sons
๐
English
โ 35 KB
๐ 2 views
Central nervous system malformations have been reported in a number of inherited enzyme defects. Ethylmalonic encephalopathy, an organic aciduria of unknown pathogenesis, has not been reported previously in association with brain or spinal cord malformations. We report on 2 sibs with confirmed ethyl