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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F10%3A7779%21RIV11-MZ0-00064165
rdf:type
skos:Concept n12:Vysledek
dcterms: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 most frequent 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 possible. 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 most frequent 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 possible.
dcterms:title
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
skos:prefLabel
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
skos:notation
RIV/00064165:_____/10:7779!RIV11-MZ0-00064165
n3:aktivita
n4:Z
n3:aktivity
Z(MSM0021620806), Z(MZ0VFN2005)
n3:cisloPeriodika
4
n3:dodaniDat
n11:2011
n3:domaciTvurceVysledku
n7:3950131 n7:6138225 n7:2876361 n7:7988818
n3:druhVysledku
n16:J
n3:duvernostUdaju
n17:S
n3:entitaPredkladatele
n8:predkladatel
n3:idSjednocenehoVysledku
249002
n3:idVysledku
RIV/00064165:_____/10:7779
n3:jazykVysledku
n10:eng
n3:klicovaSlova
neuronal ceroid-lipofuscinoses; fabry-disease; prosaposin deficiency; inborn-errors; gene; mucopolysaccharidoses; mutations; newborn; germany; involvement
n3:klicoveSlovo
n9:mucopolysaccharidoses n9:gene n9:prosaposin%20deficiency n9:involvement n9:germany n9:inborn-errors n9:mutations n9:neuronal%20ceroid-lipofuscinoses n9:newborn n9:fabry-disease
n3:kodStatuVydavatele
NL - Nizozemsko
n3:kontrolniKodProRIV
[BB04ADE85783]
n3:nazevZdroje
Journal of Inherited Metabolic Disease
n3:obor
n14:EB
n3:pocetDomacichTvurcuVysledku
4
n3:pocetTvurcuVysledku
6
n3:rokUplatneniVysledku
n11:2010
n3:svazekPeriodika
33
n3:tvurceVysledku
Dvořáková, Lenka Elleder, Milan Berná, Linda Poupětová, Helena Kožich, Viktor Ledvinová, Jana
n3:wos
000280080900010
n3:zamer
n13:MSM0021620806 n13:MZ0VFN2005
s:issn
0141-8955
s:numberOfPages
10