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Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male

Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle defect. While hemizygous males typically present with hyperammonemic coma in infancy, reports of rare late-onset presentations exist, with poor outcomes in males up to 58 years old. Relatives with mutations identical to affected p...

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Detalles Bibliográficos
Autores principales: Klein, Ophir D., Kostiner, Dana R., Weisiger, Kara, Moffatt, Ellen, Lindeman, Neal, Goodman, Stephen, Tuchman, Mendel, Packman, Seymour
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2716892/
https://www.ncbi.nlm.nih.gov/pubmed/19669271
http://dx.doi.org/10.1007/s12072-008-9078-x