Families with Wilson's disease in subsequent generations: clinical and genetic analysis.
Identifieur interne : 004143 ( Ncbi/Curation ); précédent : 004142; suivant : 004144Families with Wilson's disease in subsequent generations: clinical and genetic analysis.
Auteurs : Karolina Dzie Yc [Pologne] ; Tomasz Litwin ; Grzegorz Chabik ; Karolina Gramza ; Anna CzłonkowskaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- MESH :
- chemical , pharmacology : Ceruloplasmin, Copper.
- geographic : Great Britain.
- epidemiology : Hepatolenticular Degeneration.
- genetics : Hepatolenticular Degeneration.
- Family, Female, Genetic Predisposition to Disease, Genetic Testing, Humans, Male, Prevalence.
Abstract
Wilson's disease is an inherited autosomal recessive disorder of copper metabolism. The prevalence of Wilson's disease in most populations is approximately 1 in 30,000. The risk for offspring is 0.5%. The aim of this study was to establish the frequency of disease among offspring of a cohort of Wilson's disease patients.
DOI: 10.1002/mds.26057
PubMed: 25327413
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pubmed:25327413Le document en format XML
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<author><name sortKey="Dzie Yc, Karolina" sort="Dzie Yc, Karolina" uniqKey="Dzie Yc K" first="Karolina" last="Dzie Yc">Karolina Dzie Yc</name>
<affiliation wicri:level="1"><nlm:affiliation>2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.</nlm:affiliation>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea>
<wicri:noRegion>Warsaw</wicri:noRegion>
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<author><name sortKey="Litwin, Tomasz" sort="Litwin, Tomasz" uniqKey="Litwin T" first="Tomasz" last="Litwin">Tomasz Litwin</name>
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<author><name sortKey="Chabik, Grzegorz" sort="Chabik, Grzegorz" uniqKey="Chabik G" first="Grzegorz" last="Chabik">Grzegorz Chabik</name>
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<author><name sortKey="Gramza, Karolina" sort="Gramza, Karolina" uniqKey="Gramza K" first="Karolina" last="Gramza">Karolina Gramza</name>
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<author><name sortKey="Czlonkowska, Anna" sort="Czlonkowska, Anna" uniqKey="Czlonkowska A" first="Anna" last="Członkowska">Anna Członkowska</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Families with Wilson's disease in subsequent generations: clinical and genetic analysis.</title>
<author><name sortKey="Dzie Yc, Karolina" sort="Dzie Yc, Karolina" uniqKey="Dzie Yc K" first="Karolina" last="Dzie Yc">Karolina Dzie Yc</name>
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<country xml:lang="fr">Pologne</country>
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<wicri:noRegion>Warsaw</wicri:noRegion>
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<author><name sortKey="Litwin, Tomasz" sort="Litwin, Tomasz" uniqKey="Litwin T" first="Tomasz" last="Litwin">Tomasz Litwin</name>
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<author><name sortKey="Chabik, Grzegorz" sort="Chabik, Grzegorz" uniqKey="Chabik G" first="Grzegorz" last="Chabik">Grzegorz Chabik</name>
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<author><name sortKey="Gramza, Karolina" sort="Gramza, Karolina" uniqKey="Gramza K" first="Karolina" last="Gramza">Karolina Gramza</name>
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<author><name sortKey="Czlonkowska, Anna" sort="Czlonkowska, Anna" uniqKey="Czlonkowska A" first="Anna" last="Członkowska">Anna Członkowska</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2014" type="published">2014</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ceruloplasmin (pharmacology)</term>
<term>Copper (pharmacology)</term>
<term>Family</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing</term>
<term>Great Britain</term>
<term>Hepatolenticular Degeneration (epidemiology)</term>
<term>Hepatolenticular Degeneration (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Prevalence</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="pharmacology" xml:lang="en"><term>Ceruloplasmin</term>
<term>Copper</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Great Britain</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Hepatolenticular Degeneration</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hepatolenticular Degeneration</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Family</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Male</term>
<term>Prevalence</term>
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<front><div type="abstract" xml:lang="en">Wilson's disease is an inherited autosomal recessive disorder of copper metabolism. The prevalence of Wilson's disease in most populations is approximately 1 in 30,000. The risk for offspring is 0.5%. The aim of this study was to establish the frequency of disease among offspring of a cohort of Wilson's disease patients.</div>
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