Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation-Reference-Cited by-同舟云学术

Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation

Published:2018-08-16 Issue:1 Volume:5 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Lee Tomoko,Misaki Maiko,Shimomura Hideki,Tanaka Yasuhiko,Yoshida Satoru,Murayama Kei,Nakamura Kimitoshi,Fujiki Ryoji,Ohara Osamu,Sasai Hideo,Fukao Toshiyuki,Takeshima Yasuhiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/s41439-018-0022-x.pdf

Reference18 articles.

1. Lindgren, V., de Martinville, B., Horwich, A. L., Rosenberg, L. E. & Francke, U. Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science 226, 698–700 (1984).

2. Gordon, N. Ornithine transcarbamylase deficiency: a urea cycle defect. Eur. J. Pediatr. Neurol. 7, 115–121 (2003).

3. Yamaguchi, S., Brailey, L. L., Morizono, H., Bale, A. E. & Tuchman, M. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Hum. Mutat. 27, 626–632 (2006).

4. Maestri, N. E., Brusilow, S. W., Clissold, D. B. & Bassett, S. S. Long-term treatment of girls with orinithine transcarbamylase deficiency. N. Engl. J. Med. 335, 855–859 (1996).

5. Maestri, N. E., Lord, C., Glynn, M., Bale, A. & Brusilow, S. W. The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency. Medicine (Baltimore) 77, 389–397 (1998).

Cited by 12 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. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China;Italian Journal of Pediatrics;2024-09-11

2. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China;2023-11-24

3. Psychiatric manifestations of inborn errors of metabolism: A systematic review;Neuroscience & Biobehavioral Reviews;2023-01

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

5. Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance;Clinical Case Reports;2022-09