Grimm T, Wienker T F, Ropers H H
Hum Genet. 1976 Jun 29;32(3):329-34. doi: 10.1007/BF00295824.
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 obligatorily heterozygous sisters as well as their 5 daughters and 10 sons. Especially for identification of heterozygotes, the method described proved to be easy and reliable.
