Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10291104" target="_blank" >RIV/00216208:11110/14:10291104 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/14:10291104

Result on the web

<a href="http://dx.doi.org/10.1007/s10067-013-2423-z" target="_blank" >http://dx.doi.org/10.1007/s10067-013-2423-z</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s10067-013-2423-z" target="_blank" >10.1007/s10067-013-2423-z</a>

Result language

angličtina

Original language name

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

Original language description

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI, OMIM 253200) is caused by mutations in the gene coding for N-acetylgalactosamine-4-sulfatase (4-sulfatase, arylsulfatase B, ARSB, EC 3.1.6.12), a lysosomal enzyme involved in the degradationof dermatan sulfate (DS). The clinical presentation of MPS VI varies greatly with respect to age of onset and rate of disease progression. This report focuses on the attenuated form of MPS VI, which can go unrecognized for years and often presents withatypical signs or symptoms. We described a cohort of MPS VI patients (n = 4) heterozygous for the p.Y210C mutation who had a significant osteoarticular involvement at the onset of their disease and who were diagnosed years or even decades later. We havealso reviewed the literature (n = 36). Two types of attenuated MPS VI phenotypes could be distinguished: osteoarticular and cardiac. The majority of MPS VI patients reported so far as relatively attenuated presented with an essentially os

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

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Project

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Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Clinical Rheumatology

ISSN

0770-3198

e-ISSN

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Volume of the periodical

33

Issue of the periodical within the volume

5

Country of publishing house

GB - UNITED KINGDOM

Number of pages

7

Pages from-to

725-731

UT code for WoS article

000335401500020

EID of the result in the Scopus database

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