About: The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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. (en)
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 (en)
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 (en)
skos:notation	RIV/00064165:_____/10:7779!RIV11-MZ0-00064165
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021620806), Z(MZ0VFN2005)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Kožich, Viktor Elleder, Milan Dvořáková, Lenka Poupětová, Helena
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Všeobecná fakultní nemocnice v Praze / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	249002
http://linked.open...ai/riv/idVysledku	RIV/00064165:_____/10:7779
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	neuronal ceroid-lipofuscinoses; fabry-disease; prosaposin deficiency; inborn-errors; gene; mucopolysaccharidoses; mutations; newborn; germany; involvement (en)
http://linked.open.../riv/klicoveSlovo	newborn gene mutations fabry-disease germany inborn-errors mucopolysaccharidoses neuronal ceroid-lipofuscinoses prosaposin deficiency involvement
http://linked.open...odStatuVydavatele	NL - Nizozemsko
http://linked.open...ontrolniKodProRIV	[BB04ADE85783]
http://linked.open...i/riv/nazevZdroje	Journal of Inherited Metabolic Disease
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	33
http://linked.open...iv/tvurceVysledku	Elleder, Milan Kožich, Viktor Dvořáková, Lenka Poupětová, Helena Ledvinová, Jana Berná, Linda
http://linked.open...ain/vavai/riv/wos	000280080900010
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů Diagnosis and treatment of inherited disorders II
issn	0141-8955
number of pages	10 (xsd:int)

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