Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features.
Identifieur interne : 001896 ( PubMed/Curation ); précédent : 001895; suivant : 001897Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features.
Auteurs : Gurusidheshwar M. Wali ; Beat Thony ; Nenad BlauSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Alcohol Oxidoreductases (cerebrospinal fluid), Alcohol Oxidoreductases (deficiency), Brain (pathology), Cerebral Palsy (enzymology), Cerebral Palsy (epidemiology), Cerebral Palsy (genetics), Child, Chromosomes, Human, Pair 2 (genetics), Cognition Disorders (diagnosis), Cognition Disorders (epidemiology), Disorders of Excessive Somnolence (diagnosis), Disorders of Excessive Somnolence (epidemiology), Electroencephalography, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Metabolism, Inborn Errors (drug therapy), Metabolism, Inborn Errors (epidemiology), Metabolism, Inborn Errors (genetics), Neuropsychological Tests, Severity of Illness Index, Siblings, Videotape Recording.
- MESH :
- chemical , cerebrospinal fluid : Alcohol Oxidoreductases.
- chemical , deficiency : Alcohol Oxidoreductases.
- diagnosis : Cognition Disorders, Disorders of Excessive Somnolence.
- drug therapy : Metabolism, Inborn Errors.
- enzymology : Cerebral Palsy.
- epidemiology : Cerebral Palsy, Cognition Disorders, Disorders of Excessive Somnolence, Metabolism, Inborn Errors.
- genetics : Cerebral Palsy, Chromosomes, Human, Pair 2, Metabolism, Inborn Errors.
- pathology : Brain.
- Child, Electroencephalography, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Neuropsychological Tests, Severity of Illness Index, Siblings, Videotape Recording.
DOI: 10.1002/mds.23032
PubMed: 20222129
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pubmed:20222129Le document en format XML
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<author><name sortKey="Wali, Gurusidheshwar M" sort="Wali, Gurusidheshwar M" uniqKey="Wali G" first="Gurusidheshwar M" last="Wali">Gurusidheshwar M. Wali</name>
</author>
<author><name sortKey="Thony, Beat" sort="Thony, Beat" uniqKey="Thony B" first="Beat" last="Thony">Beat Thony</name>
</author>
<author><name sortKey="Blau, Nenad" sort="Blau, Nenad" uniqKey="Blau N" first="Nenad" last="Blau">Nenad Blau</name>
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<author><name sortKey="Wali, Gurusidheshwar M" sort="Wali, Gurusidheshwar M" uniqKey="Wali G" first="Gurusidheshwar M" last="Wali">Gurusidheshwar M. Wali</name>
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<author><name sortKey="Thony, Beat" sort="Thony, Beat" uniqKey="Thony B" first="Beat" last="Thony">Beat Thony</name>
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<author><name sortKey="Blau, Nenad" sort="Blau, Nenad" uniqKey="Blau N" first="Nenad" last="Blau">Nenad Blau</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Alcohol Oxidoreductases (deficiency)</term>
<term>Brain (pathology)</term>
<term>Cerebral Palsy (enzymology)</term>
<term>Cerebral Palsy (epidemiology)</term>
<term>Cerebral Palsy (genetics)</term>
<term>Child</term>
<term>Chromosomes, Human, Pair 2 (genetics)</term>
<term>Cognition Disorders (diagnosis)</term>
<term>Cognition Disorders (epidemiology)</term>
<term>Disorders of Excessive Somnolence (diagnosis)</term>
<term>Disorders of Excessive Somnolence (epidemiology)</term>
<term>Electroencephalography</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Metabolism, Inborn Errors (drug therapy)</term>
<term>Metabolism, Inborn Errors (epidemiology)</term>
<term>Metabolism, Inborn Errors (genetics)</term>
<term>Neuropsychological Tests</term>
<term>Severity of Illness Index</term>
<term>Siblings</term>
<term>Videotape Recording</term>
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<keywords scheme="MESH" type="chemical" qualifier="cerebrospinal fluid" xml:lang="en"><term>Alcohol Oxidoreductases</term>
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<keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Alcohol Oxidoreductases</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cognition Disorders</term>
<term>Disorders of Excessive Somnolence</term>
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<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Metabolism, Inborn Errors</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Cerebral Palsy</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Cerebral Palsy</term>
<term>Cognition Disorders</term>
<term>Disorders of Excessive Somnolence</term>
<term>Metabolism, Inborn Errors</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cerebral Palsy</term>
<term>Chromosomes, Human, Pair 2</term>
<term>Metabolism, Inborn Errors</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Electroencephalography</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Neuropsychological Tests</term>
<term>Severity of Illness Index</term>
<term>Siblings</term>
<term>Videotape Recording</term>
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<DateCreated><Year>2010</Year>
<Month>05</Month>
<Day>12</Day>
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<DateCompleted><Year>2010</Year>
<Month>08</Month>
<Day>17</Day>
</DateCompleted>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>25</Volume>
<Issue>7</Issue>
<PubDate><Year>2010</Year>
<Month>May</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features.</ArticleTitle>
<Pagination><MedlinePgn>954-5</MedlinePgn>
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<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23032</ELocationID>
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<ForeName>Gurusidheshwar M</ForeName>
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<Author ValidYN="Y"><LastName>Thony</LastName>
<ForeName>Beat</ForeName>
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<ChemicalList><Chemical><RegistryNumber>EC 1.1.-</RegistryNumber>
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</Chemical>
<Chemical><RegistryNumber>EC 1.1.1.153</RegistryNumber>
<NameOfSubstance UI="C022630">sepiapterin reductase</NameOfSubstance>
</Chemical>
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<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000429">Alcohol Oxidoreductases</DescriptorName>
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<QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002889">Chromosomes, Human, Pair 2</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D003072">Cognition Disorders</DescriptorName>
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<QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006970">Disorders of Excessive Somnolence</DescriptorName>
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<QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004569">Electroencephalography</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D007223">Infant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008661">Metabolism, Inborn Errors</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000188">drug therapy</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009483">Neuropsychological Tests</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D012720">Severity of Illness Index</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D035781">Siblings</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014743">Videotape Recording</DescriptorName>
</MeshHeading>
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