黏多糖贮积症Ⅰ型和Ⅱ型临床表型的定义。对50例患者的回顾。 - Suppr

Suppr

超能文献

Clinical definition of the Hurler-Hunter phenotypes. A review of 50 patients.

作者信息

Leroy J G, Crocker A C

出版信息

Am J Dis Child. 1966 Dec;112(6):518-30. doi: 10.1001/archpedi.1966.02090150062003.

DOI:10.1001/archpedi.1966.02090150062003

PMID:4224657

Abstract

摘要

相似文献

Clinical definition of the Hurler-Hunter phenotypes. A review of 50 patients.黏多糖贮积症Ⅰ型和Ⅱ型临床表型的定义。对50例患者的回顾。

Am J Dis Child. 1966 Dec;112(6):518-30. doi: 10.1001/archpedi.1966.02090150062003.

Hunter-Hurler syndrome: gel filtration and dialysis of urinary acid mucopolysaccharides.

Nature. 1968 Nov 9;220(5167):583-5. doi: 10.1038/220583b0.

Differentiation of mucopolysaccharidoses by analyses of the excreted sulfated mucopolysaccharides.通过对排泄的硫酸化粘多糖进行分析来鉴别粘多糖贮积症。

Clin Chim Acta. 1977 Nov 1;80(3):555-62. doi: 10.1016/0009-8981(77)90150-4.

A method for the quantitative determination of urinary glycosaminoglycans.

Clin Chim Acta. 1976 Aug 2;70(3):427-32. doi: 10.1016/0009-8981(76)90356-9.

[Two differentiated types of gargoylism--Hurler's and Hunter's].[两种不同类型的黏多糖贮积症——胡勒氏综合征和亨特氏综合征]

Cesk Pediatr. 1972 Aug;27(8):391-3.

Hunter-Hurler Syndrome: clinical and biochemical study. Combined clinical staff conference at th National Institutes of Health.亨特-胡勒综合征：临床与生化研究。美国国立卫生研究院联合临床工作人员会议。

Med Ann Dist Columbia. 1966 Nov;35(11):596-602.

Comparative structural studies of urinary glycosaminoglycans in the Hurler and Hunter syndromes.黏多糖贮积症Ⅰ型和Ⅱ型中尿糖胺聚糖的比较结构研究。

Biochim Biophys Acta. 1975 Dec 5;411(2):325-33. doi: 10.1016/0304-4165(75)90312-8.

Studies in the Hunter-Hurler's syndrome.

Trans Am Neurol Assoc. 1968;93:75-8.

Airway obstruction and sleep apnea in Hurler and Hunter syndromes.黏多糖贮积症Ⅰ型和Ⅱ型中的气道阻塞与睡眠呼吸暂停

Ann Otol Rhinol Laryngol. 1985 Sep-Oct;94(5 Pt 1):458-61. doi: 10.1177/000348948509400508.

Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI.LC-MS/MS 分析黏多糖贮积症 I、II 和 VI 型患者尿液中的糖胺聚糖

Mol Genet Metab. 2011 Jan;102(1):49-56. doi: 10.1016/j.ymgme.2010.09.003. Epub 2010 Sep 17.

引用本文的文献

Differences in MPS I and MPS II Disease Manifestations.黏多糖贮积症 I 型和 II 型临床表现的差异。

Int J Mol Sci. 2021 Jul 23;22(15):7888. doi: 10.3390/ijms22157888.

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.黏多糖贮积症 IVA 型非骨骼表现的临床概述和治疗选择。

J Inherit Metab Dis. 2013 Mar;36(2):309-22. doi: 10.1007/s10545-012-9459-0. Epub 2012 Feb 23.

Lipid composition of whole brain and cerebellum in Hurler syndrome (MPS IH) mice.黏多糖贮积症 IH 型（Hurler syndrome，MPS IH）小鼠全脑和小脑的脂质组成。

Neurochem Res. 2011 Sep;36(9):1669-76. doi: 10.1007/s11064-011-0400-y. Epub 2011 Jan 21.

Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation.

Eur J Pediatr. 2004 Jun;163(6):323-6. doi: 10.1007/s00431-004-1428-7.

A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms.亨特综合征的临床与遗传学研究。2. 轻型与重型的差异。

J Med Genet. 1982 Dec;19(6):408-11. doi: 10.1136/jmg.19.6.408.

Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus.通过终止妊娠对黏多糖贮积症I型进行早期产前诊断及胎儿的确证性检查结果。

J Med Genet. 1973 Jun;10(2):144-53. doi: 10.1136/jmg.10.2.144.

The genetic mucolipidoses. Diagnosis and differential diagnosis.遗传性黏脂贮积症。诊断与鉴别诊断。

Humangenetik. 1970;9(2):113-39. doi: 10.1007/BF00278928.

Biochemical definition of the mucopolysaccharidoses.黏多糖贮积症的生化定义。

Z Kinderheilkd. 1970;108(1):17-31. doi: 10.1007/BF00440562.

Mucopolysaccharidoses and mucolipidoses.黏多糖贮积症和黏脂贮积症。

J Clin Pathol Suppl (R Coll Pathol). 1974;8:64-93.

Articular manifestations of Scheie's syndrome.谢伊综合征的关节表现。

Ann Rheum Dis. 1992 Apr;51(4):542-3. doi: 10.1136/ard.51.4.542.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验