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Mucopolysaccharidosis VI (Maroteaux-Lamy's disease).

作者信息

Spranger J W, Koch F, McKusick V A, Natzschka J, Wiedemann H R, Zellweger H

出版信息

Helv Paediatr Acta. 1970 Oct;25(4):337-62.

PMID:4250491
Abstract
摘要

相似文献

1
Mucopolysaccharidosis VI (Maroteaux-Lamy's disease).
Helv Paediatr Acta. 1970 Oct;25(4):337-62.
2
[Mucopolysaccharidoses. I. The clinical and radiological aspects of the 6 classical mucopolysaccharidoses].
Minerva Pediatr. 1972 Sep 29;24(33):1471-578.
3
[A rare form of mucopolysaccharidosis in children, approaching late Hurler's and Scheie's syndromes].
Arch Fr Pediatr. 1971 Jan;28(1):83-94.
4
[Lipomucopolysaccharidosis, A new storage disease].[脂多糖贮积症，一种新的贮积病]
Z Kinderheilkd. 1968;103(4):285-306.
5
The nosology of the mucopolysaccharidoses.黏多糖贮积症的疾病分类学
Am J Med. 1969 Nov;47(5):730-47. doi: 10.1016/0002-9343(69)90167-3.
6
Ocular pathology of the Maroteaux-Lamy syndrome (systemic mucopolysaccharidosis type VI). Histologic and ultrastructural report of two cases.
Am J Ophthalmol. 1972 May;73(5):718-41. doi: 10.1016/0002-9394(72)90390-x.
7
[The mucopolysaccharidoses in childhood. Clinical study].[儿童黏多糖贮积症。临床研究]
Pediatria (Napoli). 1967;75(4):561-82.
8
Chondrodystrophy-mucopolysaccharidosis disparity.软骨发育不良-黏多糖贮积症差异
Clin Orthop Relat Res. 1971 Oct;80:92-104. doi: 10.1097/00003086-197110000-00014.
9
[HS-mucopolysaccharidosis of Sanfilippo (polydystrophic oligophrenia). A report on 10 patients].
Z Kinderheilkd. 1967;101(1):71-84.
10
[Mucopolysaccharidosis, with reference to a case with atypical hyaluronaciduria].[黏多糖贮积症，参考一例非典型透明质酸尿症病例]
Acta Paediatr Acad Sci Hung. 1970;11(3):301-11.

引用本文的文献

1
A Generic Assay to Detect Aberrant Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.一种用于检测异常剪接和mRNA降解以进行MPS VI分子诊断的通用检测方法。
Mol Ther Methods Clin Dev. 2020 Sep 16;19:174-185. doi: 10.1016/j.omtm.2020.09.004. eCollection 2020 Dec 11.
2
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report.伴有严重表型且对酶替代疗法反应良好的黏多糖贮积症VI型新型突变的家系研究：病例报告
Medicine (Baltimore). 2018 Oct;97(42):e12872. doi: 10.1097/MD.0000000000012872.
3
Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.
接受马罗-拉米综合征治疗的儿童的长期认知随访。
J Inherit Metab Dis. 2016 Mar;39(2):285-92. doi: 10.1007/s10545-015-9895-8. Epub 2015 Oct 8.
4
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.VI型黏多糖贮积症的骨关节表型减轻：4例患者报告及文献复习
Clin Rheumatol. 2014 May;33(5):725-31. doi: 10.1007/s10067-013-2423-z. Epub 2013 Nov 13.
5
Mucopolysaccharidosis VI.黏多糖贮积症 VI 型。
Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5.
6
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.
7
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.猫科动物 VI 型黏多糖贮积症群体中的两个突变导致三种不同的临床表型。
J Clin Invest. 1998 Jan 1;101(1):109-19. doi: 10.1172/JCI935.
8
Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI.芳基硫酸酯酶B基因的靶向破坏导致小鼠出现类似于黏多糖贮积症VI的表型。
Proc Natl Acad Sci U S A. 1996 Aug 6;93(16):8214-9. doi: 10.1073/pnas.93.16.8214.
9
Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses.
Eur J Pediatr. 1995 Feb;154(2):98-101. doi: 10.1007/BF01991908.
10
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.