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
β¦ LIBER β¦
Disease Rarity, Carrier Status, and Gender: A Triple Disadvantage for Women with Fabry Disease
β Scribed by Andrea L. Gibas; Regan Klatt; Jack Johnson; Joe T. R. Clarke; Joel Katz
- Book ID
- 106413856
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 183 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7700
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