Source:http://linkedlifedata.com/resource/pubmed/id/11345203
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2001-5-9
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pubmed:abstractText |
Gaucher disease is a genetic lipid storage disease and represents a potentially serious health problem. It arises from a deficiency of glucocerebrosidase activity with secondary accumulation of large quantities of glucocerebroside. Symptoms are usually multisystemic, often debilitating or disabling, and sometimes disfiguring, and they can lead to death. We report objective clinical response's to repeated infusion of human placental and recombinant glucocerebrosidase in 2 patients with type 1 Gaucher disease and increased hemoglobin levels and platelet counts. Splenic volume decreased during the period of enzyme administration. Enzyme replacement therapy has improved the treatment of type 1 Gaucher disease by safely and effectively arresting, decreasing, or normalizing many of its major signs and symptoms. Consideration by physicians must be given to Gaucher disease, and appropriate treatments must be given when confronted with cryptogenic pancytopenia or hepatosplenomegaly.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0925-5710
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
73
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
356-62
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:11345203-Adult,
pubmed-meshheading:11345203-Amino Acid Substitution,
pubmed-meshheading:11345203-Consanguinity,
pubmed-meshheading:11345203-DNA Mutational Analysis,
pubmed-meshheading:11345203-Female,
pubmed-meshheading:11345203-Gaucher Disease,
pubmed-meshheading:11345203-Glucosylceramidase,
pubmed-meshheading:11345203-Humans,
pubmed-meshheading:11345203-Middle Aged,
pubmed-meshheading:11345203-Mutation, Missense,
pubmed-meshheading:11345203-Nuclear Family,
pubmed-meshheading:11345203-Pancytopenia,
pubmed-meshheading:11345203-Pedigree,
pubmed-meshheading:11345203-Recombinant Fusion Proteins,
pubmed-meshheading:11345203-Splenomegaly
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pubmed:year |
2001
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pubmed:articleTitle |
Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases.
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pubmed:affiliation |
Second Department of Internal Medicine, Nagoya City University Medical School, Japan. tsuboi@amugw.aichi-med-u.ac.jp
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pubmed:publicationType |
Journal Article,
Case Reports
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