pubmed-article:2943536 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:2943536 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
pubmed-article:2943536 | lifeskim:mentions | umls-concept:C0042037 | lld:lifeskim |
pubmed-article:2943536 | lifeskim:mentions | umls-concept:C0332307 | lld:lifeskim |
pubmed-article:2943536 | lifeskim:mentions | umls-concept:C0017768 | lld:lifeskim |
pubmed-article:2943536 | lifeskim:mentions | umls-concept:C1961835 | lld:lifeskim |
pubmed-article:2943536 | lifeskim:mentions | umls-concept:C0441655 | lld:lifeskim |
pubmed-article:2943536 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
pubmed-article:2943536 | pubmed:issue | 2 | lld:pubmed |
pubmed-article:2943536 | pubmed:dateCreated | 1986-10-23 | lld:pubmed |
pubmed-article:2943536 | pubmed:abstractText | Glucocerebrosidase is present in considerable amounts in human urine. The enzyme is stable in concentrated urine for several days when stored at 0 degrees C. Like tissue glucocerebrosidase, the urinary enzyme is inhibited by conduritol B-epoxide and hydrolyses not only glucocerebroside but also the synthetic substrate 4-methyl-umbelliferyl-beta-D-glucoside. The enzyme is deficient in urine from patients with Gaucher disease (type 1). It is possible to discriminate completely between patients with type 1 Gaucher disease and control subjects by measuring the ratio glucocerebrosidase/beta-hexosaminidase in urine. The value of this ratio (mean +/- SE) with the synthetic substrates 4-methylumbelliferyl-beta-glucoside and p-nitrophenyl-beta-N-acetylglucosaminide, respectively, was 34.2 +/- 3.7 (n = 24) in the controls and 2.1 +/- 0.9 (n = 21) in the patients. | lld:pubmed |
pubmed-article:2943536 | pubmed:language | eng | lld:pubmed |
pubmed-article:2943536 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2943536 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:2943536 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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pubmed-article:2943536 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2943536 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2943536 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2943536 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2943536 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:2943536 | pubmed:month | Jul | lld:pubmed |
pubmed-article:2943536 | pubmed:issn | 0009-8981 | lld:pubmed |
pubmed-article:2943536 | pubmed:author | pubmed-author:TagerJ MJM | lld:pubmed |
pubmed-article:2943536 | pubmed:author | pubmed-author:SchramA WAW | lld:pubmed |
pubmed-article:2943536 | pubmed:author | pubmed-author:Donker-Koopma... | lld:pubmed |
pubmed-article:2943536 | pubmed:author | pubmed-author:BarrangerJ... | lld:pubmed |
pubmed-article:2943536 | pubmed:author | pubmed-author:KoosLL | lld:pubmed |
pubmed-article:2943536 | pubmed:author | pubmed-author:AertsJ MJM | lld:pubmed |
pubmed-article:2943536 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:2943536 | pubmed:day | 30 | lld:pubmed |
pubmed-article:2943536 | pubmed:volume | 158 | lld:pubmed |
pubmed-article:2943536 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:2943536 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:2943536 | pubmed:pagination | 155-63 | lld:pubmed |
pubmed-article:2943536 | pubmed:dateRevised | 2007-11-15 | lld:pubmed |
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pubmed-article:2943536 | pubmed:meshHeading | pubmed-meshheading:2943536-... | lld:pubmed |
pubmed-article:2943536 | pubmed:year | 1986 | lld:pubmed |
pubmed-article:2943536 | pubmed:articleTitle | Deficient activity of glucocerebrosidase in urine from patients with type 1 Gaucher disease. | lld:pubmed |
pubmed-article:2943536 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:2943536 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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