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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/14:10292971

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2014

Kód důvěrnosti údajů

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

Název periodika

Pediatrics International

ISSN

1328-8067

e-ISSN

—

Svazek periodika

56

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

JP - Japonsko

Počet stran výsledku

6

Strana od-do

520-525

Kód UT WoS článku

000342836700021

EID výsledku v databázi Scopus

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