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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
19
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pubmed:dateCreated |
2005-5-12
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pubmed:abstractText |
In infantile-onset cerebral folate deficiency, 5-methyltetrahydrofolate (5MTHF) levels in the cerebrospinal fluid are low, but folate levels in the serum and erythrocytes are normal. We examined serum specimens from 28 children with cerebral folate deficiency, 5 of their mothers, 28 age-matched control subjects, and 41 patients with an unrelated neurologic disorder. Serum from 25 of the 28 patients and 0 of 28 control subjects contained high-affinity blocking autoantibodies against membrane-bound folate receptors that are present on the choroid plexus. Oral folinic acid normalized 5MTHF levels in the cerebrospinal fluid and led to clinical improvement. Cerebral folate deficiency is a disorder in which autoantibodies can prevent the transfer of folate from the plasma to the cerebrospinal fluid.
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pubmed:commentsCorrections |
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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 |
May
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pubmed:issn |
1533-4406
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2005 Massachusetts Medical Society.
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pubmed:issnType |
Electronic
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pubmed:day |
12
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pubmed:volume |
352
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1985-91
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:15888699-Adolescent,
pubmed-meshheading:15888699-Adult,
pubmed-meshheading:15888699-Autoantibodies,
pubmed-meshheading:15888699-Autoimmune Diseases,
pubmed-meshheading:15888699-Biological Transport,
pubmed-meshheading:15888699-Blood-Brain Barrier,
pubmed-meshheading:15888699-Carrier Proteins,
pubmed-meshheading:15888699-Case-Control Studies,
pubmed-meshheading:15888699-Child,
pubmed-meshheading:15888699-Child, Preschool,
pubmed-meshheading:15888699-Choroid Plexus,
pubmed-meshheading:15888699-Female,
pubmed-meshheading:15888699-Folate Receptors, GPI-Anchored,
pubmed-meshheading:15888699-Folic Acid,
pubmed-meshheading:15888699-Folic Acid Deficiency,
pubmed-meshheading:15888699-Humans,
pubmed-meshheading:15888699-Male,
pubmed-meshheading:15888699-Receptors, Cell Surface,
pubmed-meshheading:15888699-Tetrahydrofolates
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pubmed:year |
2005
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pubmed:articleTitle |
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.
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pubmed:affiliation |
Division of Pediatric Neurology, Department of Pediatrics, University Hospital Aachen, Aachen, Germany. vramaekers@ukaachen.de
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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