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. | ![]() |