Lanean...

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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Klein, Ophir D., Kostiner, Dana R., Weisiger, Kara, Moffatt, Ellen, Lindeman, Neal, Goodman, Stephen, Tuchman, Mendel, Packman, Seymour
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer-Verlag 2008
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2716892/
https://ncbi.nlm.nih.gov/pubmed/19669271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12072-008-9078-x
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!