Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome.
Identifieur interne : 000908 ( Main/Exploration ); précédent : 000907; suivant : 000909Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome.
Auteurs : Fadi Alkufri ; Tim Harrower ; Yusof Rahman ; Elaine Hughes ; Helen Mundy ; Jonathan A. Knibb ; John Moriarty ; Stephen Connor ; Michael SamuelSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical : Molybdoferredoxin.
- complications : Dystonia, Metal Metabolism, Inborn Errors, Parkinsonian Disorders.
- etiology : Dystonia, Parkinsonian Disorders.
- pathology : Brain.
- Adolescent, Female, Humans, Magnetic Resonance Imaging.
DOI: 10.1002/mds.25276
PubMed: 23436702
Affiliations:
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Le document en format XML
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Knibb</name></author><author><name sortKey="Moriarty, John" sort="Moriarty, John" uniqKey="Moriarty J" first="John" last="Moriarty">John Moriarty</name></author><author><name sortKey="Connor, Stephen" sort="Connor, Stephen" uniqKey="Connor S" first="Stephen" last="Connor">Stephen Connor</name></author><author><name sortKey="Samuel, Michael" sort="Samuel, Michael" uniqKey="Samuel M" first="Michael" last="Samuel">Michael Samuel</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="doi">10.1002/mds.25276</idno><idno type="RBID">pubmed:23436702</idno><idno type="pmid">23436702</idno><idno type="wicri:Area/PubMed/Corpus">000A19</idno><idno type="wicri:Area/PubMed/Curation">000A19</idno><idno type="wicri:Area/PubMed/Checkpoint">000923</idno><idno type="wicri:Area/Ncbi/Merge">003A62</idno><idno type="wicri:Area/Ncbi/Curation">003A62</idno><idno type="wicri:Area/Ncbi/Checkpoint">003A62</idno><idno type="wicri:Area/Main/Merge">000908</idno><idno type="wicri:Area/Main/Curation">000908</idno><idno type="wicri:Area/Main/Exploration">000908</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome.</title><author><name sortKey="Alkufri, Fadi" sort="Alkufri, Fadi" uniqKey="Alkufri F" first="Fadi" last="Alkufri">Fadi Alkufri</name></author><author><name sortKey="Harrower, Tim" sort="Harrower, Tim" uniqKey="Harrower T" first="Tim" last="Harrower">Tim Harrower</name></author><author><name sortKey="Rahman, Yusof" sort="Rahman, Yusof" uniqKey="Rahman Y" first="Yusof" last="Rahman">Yusof Rahman</name></author><author><name sortKey="Hughes, Elaine" sort="Hughes, Elaine" uniqKey="Hughes E" first="Elaine" last="Hughes">Elaine Hughes</name></author><author><name sortKey="Mundy, Helen" sort="Mundy, Helen" uniqKey="Mundy H" first="Helen" last="Mundy">Helen Mundy</name></author><author><name sortKey="Knibb, Jonathan A" sort="Knibb, Jonathan A" uniqKey="Knibb J" first="Jonathan A" last="Knibb">Jonathan A. Knibb</name></author><author><name sortKey="Moriarty, John" sort="Moriarty, John" uniqKey="Moriarty J" first="John" last="Moriarty">John Moriarty</name></author><author><name sortKey="Connor, Stephen" sort="Connor, Stephen" uniqKey="Connor S" first="Stephen" last="Connor">Stephen Connor</name></author><author><name sortKey="Samuel, Michael" sort="Samuel, Michael" uniqKey="Samuel M" first="Michael" last="Samuel">Michael Samuel</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="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Brain (pathology)</term><term>Dystonia (complications)</term><term>Dystonia (etiology)</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Metal Metabolism, Inborn Errors (complications)</term><term>Molybdoferredoxin</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (etiology)</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Molybdoferredoxin</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonia</term><term>Metal Metabolism, Inborn Errors</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dystonia</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term></keywords></textClass></profileDesc></teiHeader></TEI><affiliations><list></list><tree><noCountry><name sortKey="Alkufri, Fadi" sort="Alkufri, Fadi" uniqKey="Alkufri F" first="Fadi" last="Alkufri">Fadi Alkufri</name><name sortKey="Connor, Stephen" sort="Connor, Stephen" uniqKey="Connor S" first="Stephen" last="Connor">Stephen Connor</name><name sortKey="Harrower, Tim" sort="Harrower, Tim" uniqKey="Harrower T" first="Tim" last="Harrower">Tim Harrower</name><name sortKey="Hughes, Elaine" sort="Hughes, Elaine" uniqKey="Hughes E" first="Elaine" last="Hughes">Elaine Hughes</name><name sortKey="Knibb, Jonathan A" sort="Knibb, Jonathan A" uniqKey="Knibb J" first="Jonathan A" last="Knibb">Jonathan A. Knibb</name><name sortKey="Moriarty, John" sort="Moriarty, John" uniqKey="Moriarty J" first="John" last="Moriarty">John Moriarty</name><name sortKey="Mundy, Helen" sort="Mundy, Helen" uniqKey="Mundy H" first="Helen" last="Mundy">Helen Mundy</name><name sortKey="Rahman, Yusof" sort="Rahman, Yusof" uniqKey="Rahman Y" first="Yusof" last="Rahman">Yusof Rahman</name><name sortKey="Samuel, Michael" sort="Samuel, Michael" uniqKey="Samuel M" first="Michael" last="Samuel">Michael Samuel</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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