[Hurler syndrome(MPS IH), Scheie syndrome(MPS IS)].

作者信息

Matsushita Y, Kuroiwa Y

机构信息

Department of Neurology, Yokohama City University.

出版信息

Ryoikibetsu Shokogun Shirizu. 2000(29 Pt 4):460-1.

PMID:11031992

Abstract

摘要

相似文献

[Hurler syndrome(MPS IH), Scheie syndrome(MPS IS)].

Ryoikibetsu Shokogun Shirizu. 2000(29 Pt 4):460-1.

Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).

Hum Mutat. 1995;6(1):55-9. doi: 10.1002/humu.1380060111.

Further electroretinographic studies of patients with mucopolysaccharidoses.

Birth Defects Orig Artic Ser. 1971 Mar;7(3):32-40.

Apparent allelism of the Hurler, Scheie, and Hurler/Scheie syndromes.

Am J Med Genet. 1984 Jul;18(3):547-56. doi: 10.1002/ajmg.1320180324.

[Mucopolysaccharidosis type I (Hurler syndrome, Scheie syndrome)].

Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):431-4.

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

Hum Genet. 2001 Nov;109(5):503-11. doi: 10.1007/s004390100606. Epub 2001 Oct 19.

A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).

Hum Mutat. 1994;3(3):333-6. doi: 10.1002/humu.1380030330.

Decreased corneal opacity and improved vision in a patient with mucopolysaccharidosis I (Hurler-Scheie) treated with enzyme replacement therapy (laronidase, Aldurazyme).

Am J Med Genet A. 2008 Jul 1;146A(13):1768-70. doi: 10.1002/ajmg.a.32317.

alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

J Mol Biol. 2004 Apr 30;338(3):453-62. doi: 10.1016/j.jmb.2004.03.012.

The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation.

Biochim Biophys Acta. 2003 Oct 15;1639(2):95-103. doi: 10.1016/s0925-4439(03)00129-7.

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