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Recurrent somnolence in a 17-month-old infant: Late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe)
✍ Scribed by Fantur, Michaela; Karall, Daniela; Scholl-Buergi, Sabine; Häberle, Johannes; Rauchenzauner, Markus; Fruehwirth, Martin
- Book ID
- 121784076
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 230 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1090-3798
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