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Heterozygote detection in Fabry's disease using mailed hair roots

โœ Scribed by A.J.M. Vermorken; C.A. van Bennekom; C.H.M.M. de Bruyn; T.L. Oei; J. Frohlich


Book ID
108657360
Publisher
John Wiley and Sons
Year
1980
Tongue
English
Weight
507 KB
Volume
103
Category
Article
ISSN
0007-0963

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Fabry's disease: Heterozygote detection
โœ T. Grimm; T. F. Wienker; H. -H. Ropers ๐Ÿ“‚ Article ๐Ÿ“… 1976 ๐Ÿ› Springer ๐ŸŒ English โš– 351 KB

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