Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.

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作者信息

Staudt M, Wermuth B, Freisinger P, Hässler A, Pontz B F

机构信息

Children's Hospital, Technical University, Munich, Germany

出版信息

J Inherit Metab Dis. 1998 Feb;21(1):71-2. doi: 10.1023/a:1005315531630.

DOI:10.1023/a:1005315531630

PMID:9501271

Abstract

摘要

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Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.鸟氨酸转氨甲酰酶缺乏症的致病变体：日本全国性研究及文献综述

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本文引用的文献

Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity.一名患有严重间歇性乳清酸尿症但酶活性正常的女孩中鸟氨酸转氨甲酰酶（H136R）的突变。

J Inherit Metab Dis. 1997 Aug;20(4):517-24. doi: 10.1023/a:1005397329395.

Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.别嘌醇诱发的乳清酸尿症。一项针对女性鸟氨酸氨甲酰基转移酶基因座突变的检测。

N Engl J Med. 1990 Jun 7;322(23):1641-5. doi: 10.1056/NEJM199006073222305.

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