Source:http://linkedlifedata.com/resource/pubmed/id/12970647
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2003-9-12
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pubmed:abstractText |
Neuronopathic Gaucher disease, classically divided into two types, can have a continuum of phenotypes, often defying categorization. Nine children had an intermediate phenotype characterized by a delayed age of onset but rapidly progressive neurological disease, including refractory seizures and oculomotor abnormalities. There was genotypic heterogeneity among these patients.
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pubmed:commentsCorrections | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0022-3476
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
143
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
273-6
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading | |
pubmed:year |
2003
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pubmed:articleTitle |
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.
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pubmed:affiliation |
Section on Molecular Neurogenetics, NIMH/NIH, 49 Convent Drive, MSC 4405, Bethesda, MD 20892-4405, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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