A case of ornithine transcarbamylase (OTC) deficiency that developed at the age of 19 years with acute brain edema
Author:
Affiliation:
1. Department of Emergency and Critical Care Medicine, St. Luke’s International Hospital
Publisher
Wiley
Reference8 articles.
1. 1) Kido J, Nakamura K, Mitsubuchi H, et al: Long-term outcome and intervention of urea cycle disorders in Japan. J Inherit Metab Dis. 2012; 35: 777-85.
2. 2) Yamaguchi S, Brailey LL, Morizono H, et al: Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Hum Mutat. 2006; 27: 626-32.
3. 3) Maestri NE, Brusilow SW, Clissold DB, et al: Long-term treatment of girls with ornithine transcarbamylase deficiency. N Engl J Med. 1996; 335: 855-9.
4. 4) Summar M: Current strategies for the management of neonatalurea cycle disorders. J Pediatr. 2001; 138 (1 Suppl): S30-9.
5. 6) Enns GM, Berry SA, Berry GT, et al: Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med. 2007; 356: 2282-92.
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1. A 70-year-old male who developed ornithine transcarbamylase (OTC) deficiency that progressed rapidly and caused death: a case report;Journal of the Japanese Society of Intensive Care Medicine;2022-03-01
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