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
Brain mitochondrial impairment in ethylmalonic encephalopathy
β Scribed by Salvatore Grosso; Paolo Balestri; R. Mostardini; Antonio Federico; Nicola De Stefano
- Publisher
- Springer
- Year
- 2004
- Tongue
- English
- Weight
- 216 KB
- Volume
- 251
- Category
- Article
- ISSN
- 0340-5354
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