Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl
Identifieur interne : 001560 ( Istex/Corpus ); précédent : 001559; suivant : 001561Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl
Auteurs : Emilio Fernández ; Angeles García ; Anna Sans ; Cristina Boix ; María Vilaseca ; Christianne Busquets ; Antonia RibesSource :
- Movement Disorders [ 0885-3185 ] ; 2003-09.
English descriptors
- KwdEn :
Abstract
A 16‐year‐old girl with a history of postural hand tremor was investigated. Magnetic resonance imaging, biochemical, enzymatic, and molecular studies demonstrated glutaric aciduria type I (GA1). Now, at 19 years of age, focal dystonia and oral dyskinesia are also present. This is the first reported case of GA1 with such clinical phenotype. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10442
Links to Exploration step
ISTEX:F3CEA98AAFF947ED93C5F9BF122DEF89B9D4070BLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl</title><author><name sortKey="Fernandez Varez, Emilio" sort="Fernandez Varez, Emilio" uniqKey="Fernandez Varez E" first="Emilio" last="Fernández">Emilio Fernández</name><affiliation><mods:affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Garcia Azorla, Angeles" sort="Garcia Azorla, Angeles" uniqKey="Garcia Azorla A" first="Angeles" last="García">Angeles García</name><affiliation><mods:affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Sans, Anna" sort="Sans, Anna" uniqKey="Sans A" first="Anna" last="Sans">Anna Sans</name><affiliation><mods:affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Boix, Cristina" sort="Boix, Cristina" uniqKey="Boix C" first="Cristina" last="Boix">Cristina Boix</name><affiliation><mods:affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Vilaseca, Maria Antonia" sort="Vilaseca, Maria Antonia" uniqKey="Vilaseca M" first="María" last="Vilaseca">María Vilaseca</name><affiliation><mods:affiliation>Biochemical Unit, Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Busquets, Christianne" sort="Busquets, Christianne" uniqKey="Busquets C" first="Christianne" last="Busquets">Christianne Busquets</name><affiliation><mods:affiliation>Clinical Biochemistry Institute, Hospital Clínic, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Ribes, Antonia" sort="Ribes, Antonia" uniqKey="Ribes A" first="Antonia" last="Ribes">Antonia Ribes</name><affiliation><mods:affiliation>Clinical Biochemistry Institute, Hospital Clínic, Barcelona, Spain</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:F3CEA98AAFF947ED93C5F9BF122DEF89B9D4070B</idno><date when="2003" year="2003">2003</date><idno type="doi">10.1002/mds.10442</idno><idno type="url">https://api.istex.fr/document/F3CEA98AAFF947ED93C5F9BF122DEF89B9D4070B/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001560</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl</title><author><name sortKey="Fernandez Varez, Emilio" sort="Fernandez Varez, Emilio" uniqKey="Fernandez Varez E" first="Emilio" last="Fernández">Emilio Fernández</name><affiliation><mods:affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Garcia Azorla, Angeles" sort="Garcia Azorla, Angeles" uniqKey="Garcia Azorla A" first="Angeles" last="García">Angeles García</name><affiliation><mods:affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Sans, Anna" sort="Sans, Anna" uniqKey="Sans A" first="Anna" last="Sans">Anna Sans</name><affiliation><mods:affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Boix, Cristina" sort="Boix, Cristina" uniqKey="Boix C" first="Cristina" last="Boix">Cristina Boix</name><affiliation><mods:affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Vilaseca, Maria Antonia" sort="Vilaseca, Maria Antonia" uniqKey="Vilaseca M" first="María" last="Vilaseca">María Vilaseca</name><affiliation><mods:affiliation>Biochemical Unit, Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Busquets, Christianne" sort="Busquets, Christianne" uniqKey="Busquets C" first="Christianne" last="Busquets">Christianne Busquets</name><affiliation><mods:affiliation>Clinical Biochemistry Institute, Hospital Clínic, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Ribes, Antonia" sort="Ribes, Antonia" uniqKey="Ribes A" first="Antonia" last="Ribes">Antonia Ribes</name><affiliation><mods:affiliation>Clinical Biochemistry Institute, Hospital Clínic, Barcelona, Spain</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2003-09">2003-09</date><biblScope unit="volume">18</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1076">1076</biblScope><biblScope unit="page" to="1079">1079</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">F3CEA98AAFF947ED93C5F9BF122DEF89B9D4070B</idno><idno type="DOI">10.1002/mds.10442</idno><idno type="ArticleID">MDS10442</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>dystonia</term><term>glutaric aciduria</term><term>hand tremor</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A 16‐year‐old girl with a history of postural hand tremor was investigated. Magnetic resonance imaging, biochemical, enzymatic, and molecular studies demonstrated glutaric aciduria type I (GA1). Now, at 19 years of age, focal dystonia and oral dyskinesia are also present. This is the first reported case of GA1 with such clinical phenotype. © 2003 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Emilio Fernández‐Álvarez MD, PhD</name><affiliations><json:string>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</json:string></affiliations></json:item><json:item><name>Angeles García‐Cazorla MD</name><affiliations><json:string>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</json:string></affiliations></json:item><json:item><name>Anna Sans MD</name><affiliations><json:string>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</json:string></affiliations></json:item><json:item><name>Cristina Boix PhD</name><affiliations><json:string>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</json:string></affiliations></json:item><json:item><name>María Antonia Vilaseca PhD</name><affiliations><json:string>Biochemical Unit, Hospital Sant Joan de Déu, Barcelona, Spain</json:string></affiliations></json:item><json:item><name>Christianne Busquets PhD</name><affiliations><json:string>Clinical Biochemistry Institute, Hospital Clínic, Barcelona, Spain</json:string></affiliations></json:item><json:item><name>Antonia Ribes PhD</name><affiliations><json:string>Clinical Biochemistry Institute, Hospital Clínic, Barcelona, Spain</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>glutaric aciduria</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>hand tremor</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>dystonia</value></json:item></subject><language><json:string>eng</json:string></language><abstract>A 16‐year‐old girl with a history of postural hand tremor was investigated. Magnetic resonance imaging, biochemical, enzymatic, and molecular studies demonstrated glutaric aciduria type I (GA1). Now, at 19 years of age, focal dystonia and oral dyskinesia are also present. This is the first reported case of GA1 with such clinical phenotype. © 2003 Movement Disorder Society</abstract><qualityIndicators><score>5.684</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>3</keywordCount><abstractCharCount>374</abstractCharCount><pdfWordCount>15720</pdfWordCount><pdfCharCount>101320</pdfCharCount><pdfPageCount>22</pdfPageCount><abstractWordCount>57</abstractWordCount></qualityIndicators><title>Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl</title><genre><json:string>brief communication</json:string></genre><host><volume>18</volume><pages><total>4</total><last>1079</last><first>1076</first></pages><issn><json:string>0885-3185</json:string></issn><issue>9</issue><subject><json:item><value>Clinical/Scientific Note</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8257</json:string></eissn><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2003</publicationDate><copyrightDate>2003</copyrightDate><doi><json:string>10.1002/mds.10442</json:string></doi><id>F3CEA98AAFF947ED93C5F9BF122DEF89B9D4070B</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/F3CEA98AAFF947ED93C5F9BF122DEF89B9D4070B/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/F3CEA98AAFF947ED93C5F9BF122DEF89B9D4070B/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/F3CEA98AAFF947ED93C5F9BF122DEF89B9D4070B/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2003</date></publicationStmt><notesStmt><note type="content">*A videotape accompanies this article.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl</title><author><persName><forename type="first">Emilio</forename><surname>Fernández‐Álvarez</surname></persName><roleName type="degree">MD, PhD</roleName><note type="correspondence"><p>Correspondence: Hospital Sant Joan de Déu, Servei de Neuropediatría, Avda Sant Joan de Déu, 2, 08950, Esplugues, Barcelona, Spain</p></note><affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</affiliation></author><author><persName><forename type="first">Angeles</forename><surname>García‐Cazorla</surname></persName><roleName type="degree">MD</roleName><affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</affiliation></author><author><persName><forename type="first">Anna</forename><surname>Sans</surname></persName><roleName type="degree">MD</roleName><affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</affiliation></author><author><persName><forename type="first">Cristina</forename><surname>Boix</surname></persName><roleName type="degree">PhD</roleName><affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</affiliation></author><author><persName><forename type="first">María Antonia</forename><surname>Vilaseca</surname></persName><roleName type="degree">PhD</roleName><affiliation>Biochemical Unit, Hospital Sant Joan de Déu, Barcelona, Spain</affiliation></author><author><persName><forename type="first">Christianne</forename><surname>Busquets</surname></persName><roleName type="degree">PhD</roleName><affiliation>Clinical Biochemistry Institute, Hospital Clínic, Barcelona, Spain</affiliation></author><author><persName><forename type="first">Antonia</forename><surname>Ribes</surname></persName><roleName type="degree">PhD</roleName><affiliation>Clinical Biochemistry Institute, Hospital Clínic, Barcelona, Spain</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2003-09"></date><biblScope unit="volume">18</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1076">1076</biblScope><biblScope unit="page" to="1079">1079</biblScope></imprint></monogr><idno type="istex">F3CEA98AAFF947ED93C5F9BF122DEF89B9D4070B</idno><idno type="DOI">10.1002/mds.10442</idno><idno type="ArticleID">MDS10442</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2003</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>A 16‐year‐old girl with a history of postural hand tremor was investigated. Magnetic resonance imaging, biochemical, enzymatic, and molecular studies demonstrated glutaric aciduria type I (GA1). Now, at 19 years of age, focal dystonia and oral dyskinesia are also present. This is the first reported case of GA1 with such clinical phenotype. © 2003 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>glutaric aciduria</term></item><item><term>hand tremor</term></item><item><term>dystonia</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Clinical/Scientific Note</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2002-08-07">Received</change><change when="2002-12-10">Registration</change><change when="2003-09">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/F3CEA98AAFF947ED93C5F9BF122DEF89B9D4070B/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="90"><doi origin="wiley" registered="yes">10.1002/mds.v18:9</doi><numberingGroup><numbering type="journalVolume" number="18">18</numbering><numbering type="journalIssue">9</numbering></numberingGroup><coverDate startDate="2003-09">September 2003</coverDate></publicationMeta><publicationMeta level="unit" type="shortCommunication" position="230" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.10442</doi><idGroup><id type="unit" value="MDS10442"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="articleCategory">Clinical/Scientific Note</title><title type="tocHeading1">Clinical/Scientific Notes</title></titleGroup><copyright ownership="thirdParty">Copyright © 2003 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2002-08-07"></event><event type="manuscriptRevised" date="2002-11-18"></event><event type="manuscriptAccepted" date="2002-12-10"></event><event type="publishedOnlineEarlyUnpaginated" date="2003-04-01"></event><event type="firstOnline" date="2003-04-01"></event><event type="publishedOnlineFinalForm" date="2003-09-02"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-09"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">1076</numbering><numbering type="pageLast">1079</numbering></numberingGroup><correspondenceTo>Hospital Sant Joan de Déu, Servei de Neuropediatría, Avda Sant Joan de Déu, 2, 08950, Esplugues, Barcelona, Spain</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS10442.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="25"></count><count type="wordTotal" number="2527"></count></countGroup><titleGroup><title type="main" xml:lang="en">Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl<link href="#fn1"></link></title><title type="short" xml:lang="en">Atypical Form of GA1 in a Young Girl</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Emilio</givenNames><familyName>Fernández‐Álvarez</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>efernand@medicina.ub.es</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Angeles</givenNames><familyName>García‐Cazorla</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Anna</givenNames><familyName>Sans</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Cristina</givenNames><familyName>Boix</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>María Antonia</givenNames><familyName>Vilaseca</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Christianne</givenNames><familyName>Busquets</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Antonia</givenNames><familyName>Ribes</familyName><degrees>PhD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="ES" type="organization"><unparsedAffiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="ES" type="organization"><unparsedAffiliation>Biochemical Unit, Hospital Sant Joan de Déu, Barcelona, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="ES" type="organization"><unparsedAffiliation>Clinical Biochemistry Institute, Hospital Clínic, Barcelona, Spain</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">glutaric aciduria</keyword><keyword xml:id="kwd2">hand tremor</keyword><keyword xml:id="kwd3">dystonia</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>A 16‐year‐old girl with a history of postural hand tremor was investigated. Magnetic resonance imaging, biochemical, enzymatic, and molecular studies demonstrated glutaric aciduria type I (GA1). Now, at 19 years of age, focal dystonia and oral dyskinesia are also present. This is the first reported case of GA1 with such clinical phenotype. © 2003 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>A videotape accompanies this article.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Atypical Form of GA1 in a Young Girl</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl</title></titleInfo><name type="personal"><namePart type="given">Emilio</namePart><namePart type="family">Fernández‐Álvarez</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</affiliation><description>Correspondence: Hospital Sant Joan de Déu, Servei de Neuropediatría, Avda Sant Joan de Déu, 2, 08950, Esplugues, Barcelona, Spain</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Angeles</namePart><namePart type="family">García‐Cazorla</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anna</namePart><namePart type="family">Sans</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cristina</namePart><namePart type="family">Boix</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Neuropediatric Department, Unitat Integrada Hospital Sant Joan de Déu, Barcelona, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">María Antonia</namePart><namePart type="family">Vilaseca</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Biochemical Unit, Hospital Sant Joan de Déu, Barcelona, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christianne</namePart><namePart type="family">Busquets</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Clinical Biochemistry Institute, Hospital Clínic, Barcelona, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Antonia</namePart><namePart type="family">Ribes</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Clinical Biochemistry Institute, Hospital Clínic, Barcelona, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="brief communication">shortCommunication</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2003-09</dateIssued><dateCaptured encoding="w3cdtf">2002-08-07</dateCaptured><dateValid encoding="w3cdtf">2002-12-10</dateValid><copyrightDate encoding="w3cdtf">2003</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">1</extent><extent unit="references">25</extent><extent unit="words">2527</extent></physicalDescription><abstract lang="en">A 16‐year‐old girl with a history of postural hand tremor was investigated. Magnetic resonance imaging, biochemical, enzymatic, and molecular studies demonstrated glutaric aciduria type I (GA1). Now, at 19 years of age, focal dystonia and oral dyskinesia are also present. This is the first reported case of GA1 with such clinical phenotype. © 2003 Movement Disorder Society</abstract><note type="content">*A videotape accompanies this article.</note><subject lang="en"><genre>Keywords</genre><topic>glutaric aciduria</topic><topic>hand tremor</topic><topic>dystonia</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Clinical/Scientific Note</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2003</date><detail type="volume"><caption>vol.</caption><number>18</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>1076</start><end>1079</end><total>4</total></extent></part></relatedItem><identifier type="istex">F3CEA98AAFF947ED93C5F9BF122DEF89B9D4070B</identifier><identifier type="DOI">10.1002/mds.10442</identifier><identifier type="ArticleID">MDS10442</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2003 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/JankovicV1/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001560 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 001560 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= JankovicV1
|flux= Istex
|étape= Corpus
|type= RBID
|clé= ISTEX:F3CEA98AAFF947ED93C5F9BF122DEF89B9D4070B
|texte= Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl
}}
| This area was generated with Dilib version V0.6.19. |  |