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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2003-9-9
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pubmed:abstractText |
To describe three unrelated children with a distinctive variant of Aicardi-Goutières syndrome (AGS) characterized by microcephaly, severe mental and motor retardation, dyskinesia or spasticity, and occasional seizures.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
9
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pubmed:volume |
61
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
642-7
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:12963755-Basal Ganglia,
pubmed-meshheading:12963755-Brain Diseases,
pubmed-meshheading:12963755-DNA Mutational Analysis,
pubmed-meshheading:12963755-Decalcification, Pathologic,
pubmed-meshheading:12963755-Dyskinesias,
pubmed-meshheading:12963755-Female,
pubmed-meshheading:12963755-Fibroblasts,
pubmed-meshheading:12963755-Folic Acid,
pubmed-meshheading:12963755-Humans,
pubmed-meshheading:12963755-Infant,
pubmed-meshheading:12963755-Infant, Newborn,
pubmed-meshheading:12963755-Intellectual Disability,
pubmed-meshheading:12963755-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:12963755-Leucovorin,
pubmed-meshheading:12963755-Male,
pubmed-meshheading:12963755-Microcephaly,
pubmed-meshheading:12963755-Muscle Hypertonia,
pubmed-meshheading:12963755-Phenotype,
pubmed-meshheading:12963755-Proteins,
pubmed-meshheading:12963755-Psychomotor Disorders,
pubmed-meshheading:12963755-Pterins,
pubmed-meshheading:12963755-Seizures,
pubmed-meshheading:12963755-Syndrome,
pubmed-meshheading:12963755-Tomography, X-Ray Computed
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pubmed:year |
2003
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pubmed:articleTitle |
Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.
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pubmed:affiliation |
Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland. nenad.blau@kispi.unizh.ch
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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