MovDisordV3, Main, Exploration, bibRecord, 000444

Relative exchangeable copper: a promising tool for family screening in Wilson disease.

Identifieur interne : 000444 ( Main/Exploration ); précédent : 000443; suivant : 000445

Relative exchangeable copper: a promising tool for family screening in Wilson disease.

Auteurs : Jean-Marc Trocello [France] ; Souleiman El Balkhi ; France Woimant ; Nadège Girardot-Tinant ; Philippe Chappuis ; Carla Lloyd ; Joël Poupon

Source :

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

RBID : pubmed:24375554

English descriptors

KwdEn :
- Adenosine Triphosphatases (genetics), Adolescent, Adult, Cation Transport Proteins (genetics), Child, Child, Preschool, Copper (blood), Female, Hepatolenticular Degeneration (blood), Hepatolenticular Degeneration (diagnosis), Hepatolenticular Degeneration (genetics), Humans, Male, Middle Aged, Mutation, Young Adult.
MESH :
- chemical , blood : Copper.
- chemical , genetics : Adenosine Triphosphatases, Cation Transport Proteins.
- blood : Hepatolenticular Degeneration.
- diagnosis : Hepatolenticular Degeneration.
- genetics : Hepatolenticular Degeneration.
- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Male, Middle Aged, Mutation, Young Adult.

Abstract

Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening.

DOI: 10.1002/mds.25763
PubMed: 24375554

Affiliations:

France
Paris

Le document en format XML

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<author><name sortKey="Trocello, Jean Marc" sort="Trocello, Jean Marc" uniqKey="Trocello J" first="Jean-Marc" last="Trocello">Jean-Marc Trocello</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre national de référence pour la maladie de Wilson, AP-HP, Hôpital Lariboisière, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre national de référence pour la maladie de Wilson, AP-HP, Hôpital Lariboisière, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
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<author><name sortKey="El Balkhi, Souleiman" sort="El Balkhi, Souleiman" uniqKey="El Balkhi S" first="Souleiman" last="El Balkhi">Souleiman El Balkhi</name>
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<author><name sortKey="Woimant, France" sort="Woimant, France" uniqKey="Woimant F" first="France" last="Woimant">France Woimant</name>
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<author><name sortKey="Girardot Tinant, Nadege" sort="Girardot Tinant, Nadege" uniqKey="Girardot Tinant N" first="Nadège" last="Girardot-Tinant">Nadège Girardot-Tinant</name>
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<author><name sortKey="Chappuis, Philippe" sort="Chappuis, Philippe" uniqKey="Chappuis P" first="Philippe" last="Chappuis">Philippe Chappuis</name>
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<author><name sortKey="Lloyd, Carla" sort="Lloyd, Carla" uniqKey="Lloyd C" first="Carla" last="Lloyd">Carla Lloyd</name>
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<author><name sortKey="Poupon, Joel" sort="Poupon, Joel" uniqKey="Poupon J" first="Joël" last="Poupon">Joël Poupon</name>
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<author><name sortKey="Girardot Tinant, Nadege" sort="Girardot Tinant, Nadege" uniqKey="Girardot Tinant N" first="Nadège" last="Girardot-Tinant">Nadège Girardot-Tinant</name>
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<author><name sortKey="Chappuis, Philippe" sort="Chappuis, Philippe" uniqKey="Chappuis P" first="Philippe" last="Chappuis">Philippe Chappuis</name>
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<author><name sortKey="Lloyd, Carla" sort="Lloyd, Carla" uniqKey="Lloyd C" first="Carla" last="Lloyd">Carla Lloyd</name>
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<author><name sortKey="Poupon, Joel" sort="Poupon, Joel" uniqKey="Poupon J" first="Joël" last="Poupon">Joël Poupon</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>
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<term>Cation Transport Proteins (genetics)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Copper (blood)</term>
<term>Female</term>
<term>Hepatolenticular Degeneration (blood)</term>
<term>Hepatolenticular Degeneration (diagnosis)</term>
<term>Hepatolenticular Degeneration (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Young Adult</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hepatolenticular Degeneration</term>
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<term>Middle Aged</term>
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<front><div type="abstract" xml:lang="en">Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening.</div>
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<name sortKey="Woimant, France" sort="Woimant, France" uniqKey="Woimant F" first="France" last="Woimant">France Woimant</name>
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<country name="France"><noRegion><name sortKey="Trocello, Jean Marc" sort="Trocello, Jean Marc" uniqKey="Trocello J" first="Jean-Marc" last="Trocello">Jean-Marc Trocello</name>
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Movement Disorders (revue)

Relative exchangeable copper: a promising tool for family screening in Wilson disease.

Relative exchangeable copper: a promising tool for family screening in Wilson disease.

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.