The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients-Reference-Cited by-同舟云学术

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The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients

Published:1997-01-27 Issue:2 Volume:99 Page:171-176
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Nishiyori Atsushi,Yoshino M.,Kato Hirohisa,Matsuura Toshinobu,Hoshide Ryuuji,Matsuda Ichiro,Kuno Tateo,Miyazaki Sumio,Hirose Shin-ichi,Kuromaru Ryu-ichi,Mori Masataka

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390050333.pdf

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review;Frontiers in Genetics;2022-10-11

2. Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency;BMC Gastroenterology;2022-03-28

3. Inborn errors of metabolism that cause adult-onset hyperammonemia;Journal of the Japanese Society of Intensive Care Medicine;2022-03-01

4. Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity;Human Mutation;2021-06-03

5. Late‐onset ornithine transcarbamylase deficiency: a rare cause of recurrent abnormal behavior in adults;Acute Medicine & Surgery;2020-01

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