MovDisordV3, Main, Exploration, bibRecord, 000584

Families with Wilson's disease in subsequent generations: clinical and genetic analysis.

Identifieur interne : 000584 ( Main/Exploration ); précédent : 000583; suivant : 000585

Families with Wilson's disease in subsequent generations: clinical and genetic analysis.

Auteurs : Karolina Dzie Yc [Pologne] ; Tomasz Litwin ; Grzegorz Chabik ; Karolina Gramza ; Anna Członkowska

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.

RBID : pubmed:25327413

English descriptors

KwdEn :
- Ceruloplasmin (pharmacology), Copper (pharmacology), Family, Female, Genetic Predisposition to Disease, Genetic Testing, Great Britain, Hepatolenticular Degeneration (epidemiology), Hepatolenticular Degeneration (genetics), Humans, Male, Prevalence.
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

Affiliations:

Pologne

Le 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>
</author>
<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>
<affiliation wicri:level="1"><nlm:affiliation>2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.</nlm:affiliation>
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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>
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<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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<affiliations><list><country><li>Pologne</li>
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<tree><noCountry><name sortKey="Chabik, Grzegorz" sort="Chabik, Grzegorz" uniqKey="Chabik G" first="Grzegorz" last="Chabik">Grzegorz Chabik</name>
<name sortKey="Czlonkowska, Anna" sort="Czlonkowska, Anna" uniqKey="Czlonkowska A" first="Anna" last="Członkowska">Anna Członkowska</name>
<name sortKey="Gramza, Karolina" sort="Gramza, Karolina" uniqKey="Gramza K" first="Karolina" last="Gramza">Karolina Gramza</name>
<name sortKey="Litwin, Tomasz" sort="Litwin, Tomasz" uniqKey="Litwin T" first="Tomasz" last="Litwin">Tomasz Litwin</name>
</noCountry>
<country name="Pologne"><noRegion><name sortKey="Dzie Yc, Karolina" sort="Dzie Yc, Karolina" uniqKey="Dzie Yc K" first="Karolina" last="Dzie Yc">Karolina Dzie Yc</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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Movement Disorders (revue)

Families with Wilson's disease in subsequent generations: clinical and genetic analysis.

Families with Wilson's disease in subsequent generations: clinical and genetic analysis.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.