Source:http://linkedlifedata.com/resource/pubmed/id/16151917
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
2005-9-9
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pubmed:abstractText |
Female heterozygous patients with Fabry disease are difficult to identify because of the relatively high residual activity of alpha-galactosidase. We systematically evaluated the activities of various lysosomal enzymes in dried blood samples from Fabry patients and found that the beta-glucuronidase activity was frequently elevated. The ratio of alpha-galactosidase to beta-glucuronidase proved to be a helpful tool for the diagnosis of female Fabry disease patients.
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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:issn |
0141-8955
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
803-5
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pubmed:dateRevised |
2007-3-21
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pubmed:meshHeading |
pubmed-meshheading:16151917-Blood,
pubmed-meshheading:16151917-Enzymes,
pubmed-meshheading:16151917-Fabry Disease,
pubmed-meshheading:16151917-Female,
pubmed-meshheading:16151917-Glucuronidase,
pubmed-meshheading:16151917-Heterozygote,
pubmed-meshheading:16151917-Humans,
pubmed-meshheading:16151917-Lysosomes,
pubmed-meshheading:16151917-Male,
pubmed-meshheading:16151917-Mutation,
pubmed-meshheading:16151917-Reference Values,
pubmed-meshheading:16151917-Specimen Handling,
pubmed-meshheading:16151917-alpha-Galactosidase
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pubmed:year |
2005
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pubmed:articleTitle |
The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.
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pubmed:affiliation |
Department of Paediatrics, Metabolic Laboratory, University Hospital Hamburg-Eppendorf, Hamburg, Germany. lukacs@uke.uni-hamburg.de
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pubmed:publicationType |
Journal Article
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