Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10292971" target="_blank" >RIV/00216208:11110/14:10292971 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/14:10292971

Result on the web

<a href="http://dx.doi.org/10.1111/ped.12281" target="_blank" >http://dx.doi.org/10.1111/ped.12281</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/ped.12281" target="_blank" >10.1111/ped.12281</a>

Result language

angličtina

Original language name

Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe

Original language description

BackgroundThe aim of this study was to describe the natural clinical course, incidence and prevalence of mucopolysaccharidosis type VI (MPS VI) in Russia, Kazakhstan, and Central and Eastern Europe. MethodsPatients (n = 49) were identified by retrievingthe data from eight international centers for MPS VI. ResultsA large number of patients presented with an attenuated phenotype (33%). Height and genotype were related to the severity of the disease, while no clear trend was observed between height and urinary glycosaminoglycan level. A high prevalence of the p.R152W mutation was observed both in the whole series (42%) as well as in Russian patients (43%). The incidence rate ranged from 0.0363 to 0.64 per 100000 live births in Poland and Lithuania, respectively. ConclusionsThe observed high p.R152W carrier frequency in the Lithuanian population may indicate a possible founder effect in this region. The high prevalence of this mutation observed in the whole series, as well as the Slavic o

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

Pediatrics International

ISSN

1328-8067

e-ISSN

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Volume of the periodical

56

Issue of the periodical within the volume

4

Country of publishing house

JP - JAPAN

Number of pages

6

Pages from-to

520-525

UT code for WoS article

000342836700021

EID of the result in the Scopus database

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