因新型突变E181G导致的严重鸟氨酸氨甲酰基转移酶缺乏症的产前分子诊断 - Suppr

Suppr

超能文献

Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G.

作者信息

Topaloglu A K, Sansaricq C, Fox J E, Bale A E, Tuchman M, Desnick R J

机构信息

Department of Human Genetics, Mount Sinai Medical Center, New York, NY 10029, USA.

出版信息

J Inherit Metab Dis. 1999 Feb;22(1):82-3. doi: 10.1023/a:1005411601985.

DOI:10.1023/a:1005411601985

PMID:10070622

Abstract

摘要

相似文献

Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G.因新型突变E181G导致的严重鸟氨酸氨甲酰基转移酶缺乏症的产前分子诊断

J Inherit Metab Dis. 1999 Feb;22(1):82-3. doi: 10.1023/a:1005411601985.

Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.对65个可能诊断为鸟氨酸氨甲酰基转移酶缺乏症的家族进行突变检测，其中包括14个新突变。

J Inherit Metab Dis. 2000 Nov;23(7):669-76. doi: 10.1023/a:1005614409241.

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.日本早发性鸟氨酸转氨甲酰酶（OTC）缺乏症男性患者中四个新发现的OTC突变（D126G、R129H、I172M和W332X）

Hum Mutat. 1994;3(4):402-6. doi: 10.1002/humu.1380030415.

A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.

J Inherit Metab Dis. 1995;18(3):356-7. doi: 10.1007/BF00710430.

The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency.

J Lab Clin Med. 1992 Dec;120(6):836-50.

Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms.利用DNA多态性进行鸟氨酸转氨甲酰酶缺乏症的产前诊断。

N Engl J Med. 1986 Nov 6;315(19):1205-8. doi: 10.1056/NEJM198611063151907.

Molecular detection and correction of ornithine transcarbamylase deficiency.

Trends Genet. 1990 Oct;6(10):335-9. doi: 10.1016/0168-9525(90)90255-5.

Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene.影响鸟氨酸氨甲酰基转移酶基因外显子4剪接位点的新型突变。

Hum Mol Genet. 1993 Nov;2(11):1963-4. doi: 10.1093/hmg/2.11.1963.

Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency.鸟氨酸转氨甲酰酶（OTC）基因结构与OTC缺乏症的DNA诊断。

Clin Chim Acta. 1989 Dec 15;185(3):283-9. doi: 10.1016/0009-8981(89)90218-0.

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.

本文引用的文献

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

J Inherit Metab Dis. 1997 Aug;20(4):525-7. doi: 10.1023/a:1005301513465.

The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.鸟氨酸转氨甲酰酶缺乏症的分子基础：人类酶的建模及突变的影响

J Med Genet. 1995 Sep;32(9):680-8. doi: 10.1136/jmg.32.9.680.

Failure of early dextromethorphan and sodium benzoate therapy in an infant with nonketotic hyperglycinemia.

Neuropediatrics. 1994 Oct;25(5):274-6. doi: 10.1055/s-2008-1073037.

[Propionic acidemia associated with hypertrophic pyloric stenosis and bouts of severe hyperglycemia (author's transl)].丙酸血症合并肥厚性幽门狭窄及严重高血糖发作（作者译）

Monatsschr Kinderheilkd. 1980 Nov;128(11):720-3.

Pyloric stenosis: congenital or acquired?

Arch Dis Child. 1989 Jan;64(1):138-9. doi: 10.1136/adc.64.1.138.

Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant.右美沙芬和高剂量苯甲酸盐疗法治疗婴儿非酮症高甘氨酸血症

J Pediatr. 1992 Jul;121(1):131-5. doi: 10.1016/s0022-3476(05)82559-4.

[Isovaleric acidemia combined with hypertrophic pylorstenosis (author's transl)].异戊酸血症合并肥厚性幽门狭窄（作者译）

Klin Padiatr. 1979 Sep;191(5):477-82.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验