Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia-Reference-Cited by-同舟云学术

Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia

Published:2017-06-09 Issue:4 Volume:10 Page:383-387
ISSN:1865-7257
Container-title:Clinical Journal of Gastroenterology
language:en
Short-container-title:Clin J Gastroenterol

Author:

Daijo Kana,Kawaoka Tomokazu,Nakahara Takashi,Nagaoki Yuko,Tsuge Masataka,Hiramatsu Akira,Imamura Michio,Kawakami Yoshiiku,Aikata Hiroshi,Hara Keiichi,Tajima Go,Kobayashi Masao,Chayama Kazuaki

Publisher

Springer Science and Business Media LLC

Subject

Gastroenterology,General Medicine

Link

http://link.springer.com/article/10.1007/s12328-017-0753-0/fulltext.html

Reference10 articles.

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. Lichter-Konecki U, Caldovic L, Morizono H, et al. Ornithine transcarbamylase deficiency. In: Gene reviews (R). Seattle: University of Washington; 1993.

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. Matsuda I, Matsuura T, Nishiyori A, et al. Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult. J Med Genet. 1996;33:645–8.

5. Nishiyori A, Yoshino M, Tananari Y, et al. Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male. Hum Mutat. 1998;(Suppl 1):S131–3.

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