The properties of α-galactosidase remaining in kidney and liver of patients with Fabry's disease
✍ Scribed by Itsu Kano; Tamio Yamakawa
- Book ID
- 103040674
- Publisher
- Elsevier Science
- Year
- 1974
- Tongue
- English
- Weight
- 415 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0009-3084
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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, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the a-galactosidase A gene at Xq22.1. Studies of the mutations in unrelated Fabry families have identified a variety of lesions indicating the molecular genetic heterogeneity underlying the disease. Fo