The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F10%3A7779" target="_blank" >RIV/00216208:11110/10:7779 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/10:7779
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
Original language description
The data on cases of lysosomal storage disorders (LSD) diagnosed in the Czech Republic between 1975 and 2008 were collected and analyzed. The overall prevalence of LSD in the Czech population (12.25 per 100 000) is comparable to that reported for the countries with well established and advanced diagnostics such as the Netherlands (14 per 100 000), Australia (12.9 per 100 000) a Italy (12.1 per 100 000). Thirty-four different LSD were diagnosed in a total of 478 individuals. Gaucher disease was the mostfrequent with a birth prevalence of 1.13 per 100 000 births. Among LSD groups lipidoses, mucopolysaccharidoses and neuronal ceroid lipofuscinoses were the most frequent (5.0, 3.72 and 2.29 per 100 000 live births, respectively). Glycoproteinoses , glycogenosis type II and mucolipidoses rarely occur in the Czech population. Knowledge of the birth prevalence and carrier frequency of particular disorder is important in genetic counselling and for timely intervention when treatment is possib
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
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Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2010
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Inherited Metabolic Disease
ISSN
0141-8955
e-ISSN
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Volume of the periodical
33
Issue of the periodical within the volume
4
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
10
Pages from-to
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UT code for WoS article
000280080900010
EID of the result in the Scopus database
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