MovDisordV3, PubMed, Checkpoint, bibRecord, 000446

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

Identifieur interne : 000446 ( PubMed/Checkpoint ); précédent : 000445; suivant : 000447

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

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

to stream PubMed, to step Corpus: 000636
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pubmed:24375554

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>
</placeName>
</affiliation>
</author>
<author><name sortKey="El Balkhi, Souleiman" sort="El Balkhi, Souleiman" uniqKey="El Balkhi S" first="Souleiman" last="El Balkhi">Souleiman El Balkhi</name>
</author>
<author><name sortKey="Woimant, France" sort="Woimant, France" uniqKey="Woimant F" first="France" last="Woimant">France Woimant</name>
</author>
<author><name sortKey="Girardot Tinant, Nadege" sort="Girardot Tinant, Nadege" uniqKey="Girardot Tinant N" first="Nadège" last="Girardot-Tinant">Nadège Girardot-Tinant</name>
</author>
<author><name sortKey="Chappuis, Philippe" sort="Chappuis, Philippe" uniqKey="Chappuis P" first="Philippe" last="Chappuis">Philippe Chappuis</name>
</author>
<author><name sortKey="Lloyd, Carla" sort="Lloyd, Carla" uniqKey="Lloyd C" first="Carla" last="Lloyd">Carla Lloyd</name>
</author>
<author><name sortKey="Poupon, Joel" sort="Poupon, Joel" uniqKey="Poupon J" first="Joël" last="Poupon">Joël Poupon</name>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Relative exchangeable copper: a promising tool for family screening in Wilson disease.</title>
<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>
</author>
<author><name sortKey="Woimant, France" sort="Woimant, France" uniqKey="Woimant F" first="France" last="Woimant">France Woimant</name>
</author>
<author><name sortKey="Girardot Tinant, Nadege" sort="Girardot Tinant, Nadege" uniqKey="Girardot Tinant N" first="Nadège" last="Girardot-Tinant">Nadège Girardot-Tinant</name>
</author>
<author><name sortKey="Chappuis, Philippe" sort="Chappuis, Philippe" uniqKey="Chappuis P" first="Philippe" last="Chappuis">Philippe Chappuis</name>
</author>
<author><name sortKey="Lloyd, Carla" sort="Lloyd, Carla" uniqKey="Lloyd C" first="Carla" last="Lloyd">Carla Lloyd</name>
</author>
<author><name sortKey="Poupon, Joel" sort="Poupon, Joel" uniqKey="Poupon J" first="Joël" last="Poupon">Joël Poupon</name>
</author>
</analytic>
<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>
</imprint>
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</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adenosine Triphosphatases (genetics)</term>
<term>Adolescent</term>
<term>Adult</term>
<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>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>Copper</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Adenosine Triphosphatases</term>
<term>Cation Transport Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="blood" xml:lang="en"><term>Hepatolenticular Degeneration</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" 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>Adolescent</term>
<term>Adult</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Young Adult</term>
</keywords>
</textClass>
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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>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">24375554</PMID>
<DateCreated><Year>2014</Year>
<Month>04</Month>
<Day>04</Day>
</DateCreated>
<DateCompleted><Year>2014</Year>
<Month>12</Month>
<Day>03</Day>
</DateCompleted>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>29</Volume>
<Issue>4</Issue>
<PubDate><Year>2014</Year>
<Month>Apr</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Relative exchangeable copper: a promising tool for family screening in Wilson disease.</ArticleTitle>
<Pagination><MedlinePgn>558-62</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25763</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">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.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Data from family screening were collected from the French National Center of Reference for Wilson disease. Subjects who were first- or second-degree relatives of the index case underwent clinical examination and biological parameters.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Of 127 subjects examined, copper abnormalities or low ceruloplasminemia were detected in 21 subjects, corresponding to 5 patients with Wilson disease, 14 heterozygous ATP7B carriers and 2 subjects with no ATP7B mutations. Relative exchangeable copper determination significantly discriminates heterozygous ATP7B carriers and subjects with no ATP7B mutations from WD patients with a cutoff of 15%.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Exchangeable copper appears to be a promising tool for family screening in Wilson disease.</AbstractText>
<CopyrightInformation>© 2013 International Parkinson and Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Trocello</LastName>
<ForeName>Jean-Marc</ForeName>
<Initials>JM</Initials>
<AffiliationInfo><Affiliation>Centre national de référence pour la maladie de Wilson, AP-HP, Hôpital Lariboisière, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>El Balkhi</LastName>
<ForeName>Souleiman</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y"><LastName>Woimant</LastName>
<ForeName>France</ForeName>
<Initials>F</Initials>
</Author>
<Author ValidYN="Y"><LastName>Girardot-Tinant</LastName>
<ForeName>Nadège</ForeName>
<Initials>N</Initials>
</Author>
<Author ValidYN="Y"><LastName>Chappuis</LastName>
<ForeName>Philippe</ForeName>
<Initials>P</Initials>
</Author>
<Author ValidYN="Y"><LastName>Lloyd</LastName>
<ForeName>Carla</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Poupon</LastName>
<ForeName>Joël</ForeName>
<Initials>J</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2013</Year>
<Month>12</Month>
<Day>27</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D027682">Cation Transport Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>789U1901C5</RegistryNumber>
<NameOfSubstance UI="D003300">Copper</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 3.6.1.-</RegistryNumber>
<NameOfSubstance UI="D000251">Adenosine Triphosphatases</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 3.6.3.4</RegistryNumber>
<NameOfSubstance UI="C093154">Wilson disease protein</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000251">Adenosine Triphosphatases</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D027682">Cation Transport Proteins</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D003300">Copper</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000097">blood</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006527">Hepatolenticular Degeneration</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000097">blood</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">ATP7B</Keyword>
<Keyword MajorTopicYN="N">Wilson disease</Keyword>
<Keyword MajorTopicYN="N">family screening</Keyword>
<Keyword MajorTopicYN="N">relative exchangeable copper</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year>
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<tree><noCountry><name sortKey="Chappuis, Philippe" sort="Chappuis, Philippe" uniqKey="Chappuis P" first="Philippe" last="Chappuis">Philippe Chappuis</name>
<name sortKey="El Balkhi, Souleiman" sort="El Balkhi, Souleiman" uniqKey="El Balkhi S" first="Souleiman" last="El Balkhi">Souleiman El Balkhi</name>
<name sortKey="Girardot Tinant, Nadege" sort="Girardot Tinant, Nadege" uniqKey="Girardot Tinant N" first="Nadège" last="Girardot-Tinant">Nadège Girardot-Tinant</name>
<name sortKey="Lloyd, Carla" sort="Lloyd, Carla" uniqKey="Lloyd C" first="Carla" last="Lloyd">Carla Lloyd</name>
<name sortKey="Poupon, Joel" sort="Poupon, Joel" uniqKey="Poupon J" first="Joël" last="Poupon">Joël Poupon</name>
<name sortKey="Woimant, France" sort="Woimant, France" uniqKey="Woimant F" first="France" last="Woimant">France Woimant</name>
</noCountry>
<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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</record>

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	Movement Disorders (revue)
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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...)

Links to Exploration step

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