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
✦ LIBER ✦
2FC4.4 Epidemiology of central nervous system malformations in Hungary
✍ Scribed by N. Szabó; G. Gergev; J. Kóbor; A. Svékus; E. Bereg; P. Szũcs; É. Romhányi; A. Valek; L. Kaizer; S. Túri; L. Sztriha
- Book ID
- 114360329
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 49 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1090-3798
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