Suppr超能文献

黏多糖贮积症排泄正常,但有硫酸皮肤素尿症,并伴有轻度马罗-拉米表型。

Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.

作者信息

Tønnesen T, Gregersen H N, Güttler F

机构信息

John F Kennedy Institute, Glostrup, Denmark.

出版信息

J Med Genet. 1991 Jul;28(7):499-501. doi: 10.1136/jmg.28.7.499.

Abstract

A mildly affected Maroteaux-Lamy patient is described. Electrophoretic separation of acid mucopolysaccharides (MPS) in the urine showed an increased excretion of dermatan sulphate in spite of a normal total excretion of MPS.

摘要

本文描述了一名症状较轻的马罗-拉米病患者。尽管酸性黏多糖(MPS)的总排泄量正常,但尿液中酸性黏多糖的电泳分离显示硫酸皮肤素的排泄量增加。

相似文献

1
Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.
J Med Genet. 1991 Jul;28(7):499-501. doi: 10.1136/jmg.28.7.499.
2
5
Mental retardation in a patient with Maroteaux-Lamy.
Clin Genet. 1987 Feb;31(2):114-7. doi: 10.1111/j.1399-0004.1987.tb02779.x.
6
Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome.
Science. 1977 Nov 25;198(4319):834-6. doi: 10.1126/science.144321.
7
Animal models for lysosomal storage diseases: a new case of feline mucopolysaccharidosis VI.
J Inherit Metab Dis. 1992;15(1):17-24. doi: 10.1007/BF01800339.
8
[Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)].
Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):446-8.
9
Arylsulfatase B-deficient mucopolysaccharidosis in rats.
J Clin Invest. 1993 Mar;91(3):1099-104. doi: 10.1172/JCI116268.

引用本文的文献

1
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
Clin Rheumatol. 2014 May;33(5):725-31. doi: 10.1007/s10067-013-2423-z. Epub 2013 Nov 13.
3
Mucopolysaccharidosis VI.
Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5.
5
Screening for lysosomal disorders.
Eur J Pediatr. 1994;153(7 Suppl 1):S38-43. doi: 10.1007/BF02138776.

本文引用的文献

3
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.
Am J Dis Child. 1973 Dec;126(6):747-55. doi: 10.1001/archpedi.1973.02110190597003.
4
Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome.
Biochem Biophys Res Commun. 1974 Dec 23;61(4):1450-7. doi: 10.1016/s0006-291x(74)80446-8.
5
Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase.
Biochem Biophys Res Commun. 1974 Oct 8;60(3):1170-7. doi: 10.1016/0006-291x(74)90435-5.
6
Mental retardation in a patient with Maroteaux-Lamy.
Clin Genet. 1987 Feb;31(2):114-7. doi: 10.1111/j.1399-0004.1987.tb02779.x.
8
Report of a mucopolysaccharidosis occurring in Australian aborigines.
J Med Genet. 1978 Dec;15(6):455-61. doi: 10.1136/jmg.15.6.455.

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