具有正常体外活性的症状性鸟氨酸氨甲酰基转移酶缺乏症（点突变H202P） - Suppr

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超能文献

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

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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Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.具有正常体外活性的症状性鸟氨酸氨甲酰基转移酶缺乏症（点突变H202P）

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

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Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.

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A fatal variant of human ornithine carbamoyltransferase is stimulated by Mg2+.

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X-linked transmission of structural gene mutations responsible for ornithine-transcarbamylase deficiencies.导致鸟氨酸转氨甲酰酶缺乏的结构基因突变的X连锁遗传。

Lancet. 1973 Feb 3;1(7797):261-2. doi: 10.1016/s0140-6736(73)90097-4.

A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.

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Enzyme studies on a new case of ornithine carbamoyl transferase deficiency: remaining problems and a method of diagnosis based on plasma enzyme ratios.一例鸟氨酸氨甲酰基转移酶缺乏症新病例的酶学研究：遗留问题及基于血浆酶比率的诊断方法

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[Ornithine-transcarbamylase deficiency: prognostic difficulties].[鸟氨酸转氨甲酰酶缺乏症：预后困难]

An Esp Pediatr. 1991 Dec;35(6):407-8.

引用本文的文献

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

Front Genet. 2022 Oct 11;13:952467. doi: 10.3389/fgene.2022.952467. eCollection 2022.

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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