Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature-Reference-Cited by-同舟云学术

Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature

Published:2010-11-12 Issue:1 Volume:4 Page:
ISSN:1752-1947
Container-title:Journal of Medical Case Reports
language:en
Short-container-title:J Med Case Reports

Author:

Pinner Jason R,Freckmann Mary-Louise,Kirk Edwin P,Yoshino Makoto

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/article/10.1186/1752-1947-4-361/fulltext.html

Reference15 articles.

1. Brusilow SW, Horwich AL: Urea cycle enzymes. The Metabolic and Molecular Bases of Inherited Disease. Edited by: Scriver CR, et al. 2001, New York: McGraw-Hill, 1909-1963.

2. Ricciuti FC, Gelehrter TD, Rosenberg LE: X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase. Am J Hum Genet. 1976, 28 (4): 332-338.

3. Tuchman M, Morizono , Rajagopal BS, Plante RJ, Allewell NM: The biochemical and molecular spectrum of ornithine transcarbamylase deficiency. J Inher Metab Disease. 1998, 21 (Suppl 1): 40-58. 10.1023/A:1005353407220.

4. McCullough BA, Yudkoff M, Batshaw ML, Wilson JM, Raper SE, Tuchman M: Genotype Spectrum of Ornithine Transcarbamylase Deficiency: Correlation With the Clinical and Biochemical Phenotype. Am J Med Genet. 2000, 93: 313-319. 10.1002/1096-8628(20000814)93:4<313::AID-AJMG11>3.0.CO;2-M.

5. Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M: Mutations and Polymorphisms in the Human Ornithine Transcarbamylase (OTC) Gene. Human Mutation. 2006, 27 (7): 626-632. 10.1002/humu.20339.

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