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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 |
2005-6-2
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pubmed:abstractText |
Isolated functional methionine synthase deficiency occurs in the cblE and cblG defects of methylcobalamin metabolism and is one of a number of causes of severely elevated plasma homocysteine. Clinical features are predominantly of a neurological nature but also include functional restriction of the visual system manifesting as loss of visual acuity and nystagmus. As yet, the origin and pathogenesis of impaired vision have not been explained.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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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 |
0721-832X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
243
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
497-500
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:15931548-5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase,
pubmed-meshheading:15931548-Electroretinography,
pubmed-meshheading:15931548-Evoked Potentials, Visual,
pubmed-meshheading:15931548-Genetic Complementation Test,
pubmed-meshheading:15931548-Humans,
pubmed-meshheading:15931548-Infant,
pubmed-meshheading:15931548-Male,
pubmed-meshheading:15931548-Retinal Cone Photoreceptor Cells,
pubmed-meshheading:15931548-Retinal Diseases,
pubmed-meshheading:15931548-Retinal Ganglion Cells,
pubmed-meshheading:15931548-Retinal Rod Photoreceptor Cells,
pubmed-meshheading:15931548-Vision Disorders,
pubmed-meshheading:15931548-Vitamin B 12
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pubmed:year |
2005
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pubmed:articleTitle |
Disturbed visual system function in methionine synthase deficiency.
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pubmed:affiliation |
Department of Paediatric Ophthalmology and Ophthalmogenetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany. charlotte.poloschek@klinik.uni-regensburg.de
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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