Ornithine carbamoyltransferase deficiency: unusual clinical findings and novel mutation.

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作者信息

Shih V E, Safran A P, Ropper A H, Tuchman M

机构信息

Neurology Service, Massachusetts General Hospital, Boston 02129, USA.

出版信息

J Inherit Metab Dis. 1999 Jun;22(5):672-3. doi: 10.1023/a:1005502718790.

DOI:10.1023/a:1005502718790

PMID:10399103

Abstract

摘要

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Ornithine carbamoyltransferase deficiency: unusual clinical findings and novel mutation.

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引用本文的文献

Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China.中国东南部 10 例鸟氨酸氨甲酰转移酶缺陷症的临床特征和分子遗传学分析。

Ital J Pediatr. 2024 Sep 11;50(1):171. doi: 10.1186/s13052-024-01740-8.

本文引用的文献

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏症的生化与分子谱

J Inherit Metab Dis. 1998;21 Suppl 1:40-58. doi: 10.1023/a:1005353407220.

Transient visual loss in ornithine transcarbamoylase deficiency.鸟氨酸转氨甲酰酶缺乏症中的短暂性视力丧失。

Am J Ophthalmol. 1987 Oct 15;104(4):407-12. doi: 10.1016/0002-9394(87)90232-7.

Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.通过单链构象多态性检测到鸟氨酸转氨甲酰酶基因中的六个新突变。

Pediatr Res. 1992 Nov;32(5):600-4. doi: 10.1203/00006450-199211000-00024.

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