Abstract
Material cross-reacting with antibodies to acid lipase was demonstrated in fibroblasts of three patients with Wolman disease and three with cholesterol ester storage disease. Quantitation of the immunologically cross-reacting material (CRM) by a single radial immunodiffusion method revealed normal levels in both mutant cell types. CRM specific activity toward triolein and cholesteryl oleate was reduced about 200-fold in the Wolman disease fibroblasts and 50- to 100-fold in the cholesterol ester storage disease cells when compared to normal.
Original language | English (US) |
---|---|
Pages (from-to) | 203-208 |
Number of pages | 6 |
Journal | American Journal of Human Genetics |
Volume | 33 |
Issue number | 2 |
State | Published - Jan 1 1981 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)