Source:http://linkedlifedata.com/resource/pubmed/id/18603565
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
8
|
| pubmed:dateCreated |
2008-8-1
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| pubmed:abstractText |
Gaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy. Analysis of Gaucher disease registry data has outlined the clinical heterogeneity of the disease and the different responses to treatment from patient to patient, and for different organs. This variability in clinical response justifies the development of a severity score index to assess disease activity, stage and prognosis, and to quantify the effects of treatment.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
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| pubmed:issn |
1592-8721
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| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
93
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1211-8
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| pubmed:meshHeading |
pubmed-meshheading:18603565-Bone Density,
pubmed-meshheading:18603565-Bone Diseases, Metabolic,
pubmed-meshheading:18603565-Bone Marrow,
pubmed-meshheading:18603565-Enzymes,
pubmed-meshheading:18603565-Gaucher Disease,
pubmed-meshheading:18603565-Humans,
pubmed-meshheading:18603565-Lung,
pubmed-meshheading:18603565-Phenotype,
pubmed-meshheading:18603565-Severity of Illness Index,
pubmed-meshheading:18603565-Viscera
|
| pubmed:year |
2008
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| pubmed:articleTitle |
A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease.
|
| pubmed:affiliation |
Rare Disease Unit, II Division of Pediatrics, Gaslini Institute, Genova, Italy. majadirocco@ospedale-gaslini.ge.it
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| pubmed:publicationType |
Journal Article
|