Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
1977-1-3
pubmed:abstractText
Lysosomal acid lipase (LAL) activity was measured using a new fluorometric assay in cultured skin fibroblasts from eight control subjects, two obligate heterozygotes for Wolman's disease (WD), one patient with WD, and one patient with cholesteryl ester storage disease (CESD). The LAL activities (mean+/-SD) were 25.8+/-8.2, 13.2+/-0.1,1.1, and 1.4 nmol 4-methylumbelliferyl oleate (4-MUO) hydrolyzed/min/mg protein, respectively. These results compare favorably with those obtained using standard radioassays. The LAL activities of two cultures of amniotic fluid cells were 12.1 and 10.5. The LAL activity (mean+/-SD) of peripheral leukocytes obtained from 34 laboratory volunteers (19 females, 15 males) was 4.0+/-1.8. Partially purified lymphocytes contained about 25 times as much LAL activity as did granulocytes. Cellogel electrophoresis, followed by staining with 4-MUO, showed at least two bands of LAL (A and B) from normal fibroblasts, amniotic fluid cells, and lymphocytes. Band A was absent from WD and CESD fibroblasts and was reduced in fibroblasts of the WD heterozygotes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0031-3998
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
927-32
pubmed:dateRevised
2009-10-27
pubmed:meshHeading
pubmed:year
1976
pubmed:articleTitle
Genetic variation of lysosomal acid lipase.
pubmed:publicationType
Journal Article, Case Reports