三例芳基硫酸酯酶B缺乏症猫家族中的黏多糖贮积病：白细胞研究与携带者鉴定 - Suppr

Suppr

超能文献

Mucopolysaccharide storage disease in three families of cats with arylsulfatase B deficiency: leukocyte studies and carrier identification.

作者信息

Haskins M E, Jezyk P F, Patterson D F

出版信息

Pediatr Res. 1979 Nov;13(11):1203-10. doi: 10.1203/00006450-197911000-00001.

DOI:10.1203/00006450-197911000-00001

PMID:229456

Abstract

摘要

相似文献

Mucopolysaccharide storage disease in three families of cats with arylsulfatase B deficiency: leukocyte studies and carrier identification.三例芳基硫酸酯酶B缺乏症猫家族中的黏多糖贮积病：白细胞研究与携带者鉴定

Pediatr Res. 1979 Nov;13(11):1203-10. doi: 10.1203/00006450-197911000-00001.

An improved method for heterozygote identification in feline and human mucopolysaccharidosis VI, arylsulfatase-B deficiency.一种用于猫和人类黏多糖贮积症VI（芳基硫酸酯酶B缺乏症）中杂合子鉴定的改良方法。

Enzyme. 1981;26(4):206-10. doi: 10.1159/000459176.

Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome.一只芳基硫酸酯酶B缺乏的猫的黏多糖贮积症：马罗-拉米综合征的模型

Science. 1977 Nov 25;198(4319):834-6. doi: 10.1126/science.144321.

Correction of feline arylsulphatase B deficiency (mucopolysaccharidosis VI) by bone marrow transplantation.通过骨髓移植纠正猫的芳基硫酸酯酶B缺乏症（粘多糖贮积症VI型）

Nature. 1984;312(5993):467-9. doi: 10.1038/312467a0.

Morphology of leukocytes from cats affected with alpha-mannosidosis and mucopolysaccharidosis VI (MPS VI).患有α-甘露糖苷贮积症和黏多糖贮积症VI（MPS VI）的猫的白细胞形态学。

Vet Pathol. 1989 Jul;26(4):294-302. doi: 10.1177/030098588902600402.

Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity.猫黏多糖贮积症VI：驻留芳基硫酸酯酶B活性的纯化与特性分析

Am J Hum Genet. 1981 Nov;33(6):916-27.

Feline models of mucopolysaccharidosis.

Birth Defects Orig Artic Ser. 1980;16(1):219-24.

The pathology of the feline model of mucopolysaccharidosis VI.猫黏多糖贮积症VI型模型的病理学

Am J Pathol. 1980 Dec;101(3):657-74.

Rapid method for measuring arylsulfatase A and B in leucocytes as a diagnosis for sulfatidosis, mucosulfatidosis and mucopolysaccharidosis VI.用于测量白细胞中芳基硫酸酯酶A和B的快速方法，作为硫脂沉积症、粘多糖硫酸酯沉积症和粘多糖贮积症VI的诊断方法。

Clin Chim Acta. 1976 May 3;68(3):339-41. doi: 10.1016/0009-8981(76)90401-0.

Reclassification of previously reported cases of mucopolysaccharidosis type IS to mucopolysaccharidosis type VI.先前报告的I型黏多糖贮积症病例重新分类为VI型黏多糖贮积症。

Clin Chim Acta. 1982 Sep 1;124(1):137-9. doi: 10.1016/0009-8981(82)90327-8.

引用本文的文献

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.黏多糖贮积症 VI 型：疾病的最新概述。

Int J Mol Sci. 2021 Dec 15;22(24):13456. doi: 10.3390/ijms222413456.

Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene.一只大丹犬因ARSB基因的无义突变导致的VI型黏多糖贮积症。

Vet Pathol. 2018 Mar;55(2):286-293. doi: 10.1177/0300985817732115. Epub 2017 Nov 20.

Mucopolysaccharidosis VI in cats - clarification regarding genetic testing.猫的黏多糖贮积症VI型——关于基因检测的说明

BMC Vet Res. 2016 Jul 2;12(1):136. doi: 10.1186/s12917-016-0764-y.

Pathogenesis and treatment of spine disease in the mucopolysaccharidoses.黏多糖贮积症中脊柱疾病的发病机制与治疗

Mol Genet Metab. 2016 Aug;118(4):232-43. doi: 10.1016/j.ymgme.2016.06.002. Epub 2016 Jun 4.

A review of gene therapy in canine and feline models of lysosomal storage disorders.溶酶体贮积症犬猫模型中的基因治疗综述。

Hum Gene Ther Clin Dev. 2015 Mar;26(1):27-37. doi: 10.1089/humc.2015.002. Epub 2015 Feb 11.

Feline degenerative joint disease: a genomic and proteomic approach.猫退行性关节病：一种基因组学和蛋白质组学方法。

J Feline Med Surg. 2013 Jun;15(6):466-77. doi: 10.1177/1098612X12470652. Epub 2013 Jan 7.

Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8.针对黏多糖贮积症 VI 型的基因治疗对没有预先存在的抗 AAV8 免疫的猫是有效的。

Hum Gene Ther. 2013 Feb;24(2):163-9. doi: 10.1089/hum.2012.179. Epub 2013 Jan 30.

Biodistribution and pharmacodynamics of recombinant human alpha-L-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrations.多次鞘内给药后黏多糖贮积症 I 型患猫重组人 α-L-艾杜糖苷酸酶（rhIDU）的体内分布和药效动力学。

Mol Genet Metab. 2011 Jul;103(3):268-74. doi: 10.1016/j.ymgme.2011.03.011. Epub 2011 Mar 21.

Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer.AAV 介导的肝基因转移后猫黏多糖贮积症 VI 的长期改善。

Mol Ther. 2011 Mar;19(3):461-9. doi: 10.1038/mt.2010.257. Epub 2010 Nov 30.

Gene therapy for lysosomal storage diseases (LSDs) in large animal models.大型动物模型中溶酶体贮积症（LSDs）的基因治疗。

ILAR J. 2009;50(2):112-21. doi: 10.1093/ilar.50.2.112.

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