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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2-3
|
| pubmed:dateCreated |
1984-12-7
|
| pubmed:abstractText |
In this work we have studied the leucocytes and sera of 3 Gaucher patients, 4 obligate heterozygotes, 11 brothers and sisters of patients and 11 controls. Beta-glucosidase activity with 4-M-U-beta-glucopyranoside has been assayed at different pH's, in the presence of pure sodium taurocholate. At pH 4.5 and 5.0 sodium taurocholate activates the beta-glucosidase of control leucocytes, but inhibits the residual enzyme present in Gaucher leucocytes. The ratio of beta-glucosidase activity in the presence and absence of this effector seems to be a good approach to the diagnosis of Gaucher disease and it has proved indispensible in one patient's diagnosis. The apparent Km of beta-glucosidase determined for the same substrate, at pH 4.5 and 5.5 in the presence of sodium taurocholate showed markedly lower values in the patients than in the controls. An increased serum acid phosphatase activity, previously described as a secondary alteration in Gaucher disease, has also been studied and seems to be a useful complementary test, particularly when its age dependence is taken into account.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
|
| pubmed:issn |
0009-8981
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
31
|
| pubmed:volume |
141
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
111-8
|
| pubmed:dateRevised |
2007-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:6435915-Acid Phosphatase,
pubmed-meshheading:6435915-Adolescent,
pubmed-meshheading:6435915-Adult,
pubmed-meshheading:6435915-Child,
pubmed-meshheading:6435915-Child, Preschool,
pubmed-meshheading:6435915-Clinical Enzyme Tests,
pubmed-meshheading:6435915-Female,
pubmed-meshheading:6435915-Gaucher Disease,
pubmed-meshheading:6435915-Glucosidases,
pubmed-meshheading:6435915-Heterozygote Detection,
pubmed-meshheading:6435915-Humans,
pubmed-meshheading:6435915-Hydrogen-Ion Concentration,
pubmed-meshheading:6435915-Kinetics,
pubmed-meshheading:6435915-Leukocytes,
pubmed-meshheading:6435915-Male,
pubmed-meshheading:6435915-Substrate Specificity,
pubmed-meshheading:6435915-Taurocholic Acid,
pubmed-meshheading:6435915-beta-Glucosidase
|
| pubmed:year |
1984
|
| pubmed:articleTitle |
Sodium taurocholate effect on beta-glucosidase activity: a new approach for identification of Gaucher disease using the synthetic substrate and leucocytes.
|
| pubmed:publicationType |
Journal Article
|