Internalization of exogenous gangliosides in cultured skin fibroblasts for the diagnosis of mucolipidosis IV
β Scribed by Marcia Zeigler; Gideon Bach
- Book ID
- 115825453
- Publisher
- Elsevier Science
- Year
- 1986
- Tongue
- English
- Weight
- 531 KB
- Volume
- 157
- Category
- Article
- ISSN
- 0009-8981
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The Smith-Lemli-Opitz syndrome is a common birth defect syndrome caused by a deficiency of 7-dehydrocholesterol β¬ 7 -reductase, an essential enzyme in the biosynthesis of cholesterol. The syndrome can usually be diagnosed easily from the plasma markers of markedly elevated 7-dehydrocholesterol and r
## Abstract In extracts of normal and LeschβNyhan (LN) heterozygous skin fibroblast monolayer cultures, hypoxanthineβguanine (HβG) and adenine (A) phosphoribosyltransferase (PRT) activities are correlated. These activities vary concomitantly during the life cycle of a culture: Peak activities occur