The alpha-galactosidase A activity from fibroblasts of five Fabry patients and five controls has been separated from alpha-galactosidase B through small DEAE-cellulose columns and in some experiments by treatment of the fibroblast extracts with Sepharose coupled to anti-alpha-galactosidase B antibod
Fibroblast α-galactosidase a activity for identification of Fabry's disease heterozygotes
✍ Scribed by A. H. Fensom; P. F. Benson; A. Ronayne Grant; L. Jacobs
- Book ID
- 105314860
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 459 KB
- Volume
- 2
- Category
- Article
- ISSN
- 0141-8955
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Fabry disease is an X-linked inborn error of sphingolipid catabolism resulting from deficient enzyme activity of a-galactosidase A. The molecular defects of human a-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the ge
Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal; EC 3.2.1.22). In the past, it has been difficult to give an unequivocal diagnosis of carrier status in Fabry disease because of the overlap between normal and heterozygote enzyme lev