Art

J-GLOBAL ID：201702284966734577   Reference number：17A1904810

Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia

高アンモニア血症を伴う遅発性オルニチントランスカルバミラーゼ欠損症

Author (13)： DAIJO Kana (Hiroshima Univ. Hospital, Hiroshima, JPN) ,  KAWAOKA Tomokazu (Hiroshima Univ. Hospital, Hiroshima, JPN) ,  NAKAHARA Takashi (Hiroshima Univ. Hospital, Hiroshima, JPN) ,  NAGAOKI Yuko (Hiroshima Univ. Hospital, Hiroshima, JPN) ,  TSUGE Masataka (Hiroshima Univ. Hospital, Hiroshima, JPN) ,  HIRAMATSU Akira (Hiroshima Univ. Hospital, Hiroshima, JPN) ,  IMAMURA Michio (Hiroshima Univ. Hospital, Hiroshima, JPN) ,  KAWAKAMI Yoshiiku (Hiroshima Univ. Hospital, Hiroshima, JPN) ,  AIKATA Hiroshi (Hiroshima Univ. Hospital, Hiroshima, JPN) ,  HARA Keiichi (National Hospital Organization Kure Medical Center, Kure, JPN) ,  TAJIMA Go (Hiroshima Univ. Graduate School of Biomedical and Health Sci., Hiroshima, JPN) ,  KOBAYASHI Masao (Hiroshima Univ. Graduate School of Biomedical and Health Sci., Hiroshima, JPN) ,  CHAYAMA Kazuaki (Hiroshima Univ. Hospital, Hiroshima, JPN)
Material： Clinical Journal of Gastroenterology (Web)
Volume： 10  Issue： 4  Page： 383-387 (WEB ONLY)  Publication year： Aug. 2017 
JST Material Number： U1136A  ISSN： 1865-7257  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： *hyperammonemia ,...
Semi thesaurus term： Amino Acid Substitution ,...

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JST classification (1)： Treatment for metabolic diseases,nutritional diseases.  (GD05030F)

Substance index (2)： Arginine ,  Lactulose

Reference (10)：

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

Terms in the title (3)： 高アンモニア血症 ,  遅発性 ,  オルニチントランスカルバミラーゼ欠損症