Fabry's disease (angiokeratoma corporis diffusum) can be diagnosed by determination of alpha-galactosidase activity in single hair roots. A technique has been developed permitting subsequent analysis of enzyme activity and protein content of hair root cells. We have applied this method examining 8 o
Anderson-fabry disease: Rapid detection of carriers by hair bulb analysis
β Scribed by A. Ejiofor; D. Robinson; D. Wise; M. Hamers; J. M. Tager
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 454 KB
- Volume
- 1
- Category
- Article
- ISSN
- 0141-8955
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Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism that results from the deficient activity of the lysosomal enzyme β£-galactosidase A (β£-Gal A). A rapid, reliable, and universal linkage method was developed for molecular carrier detection and prenatal diagnosis. By d
Fabry disease (FD) is an X-linked recessive disorder caused by the deficient activity of the lysosomal enzyme β£-galactosidase A (β£-Gal A). Affected males are reliably diagnosed by demonstration of deficient β£-Gal A activity in plasma or leukocytes. However, identification of female carriers is probl