Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young
✍ Scribed by De Brabander, Isabel; Yperzeele, Laetitia; Ceuterick-De Groote, Chantal; Brouns, Raf; Baker, Robert; Belachew, Shibeshih; Delbecq, Jean; De Keulenaer, Gilles; Dethy, Sophie; Eyskens, François; Fumal, Arnaud; Hemelsoet, Dimitri; Hughes, Derralynn; Jeangette, Sandrine; Nuytten, Dirk; Redondo, Patricia; Sadzot, Bernard; Sindic, Christian; Sheorajpanday, Rishi; Thijs, Vincent; Van Broeckhoven, Christine; De Deyn, Peter P.
- Book ID
- 123184373
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 256 KB
- Volume
- 115
- Category
- Article
- ISSN
- 0303-8467
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📜 SIMILAR VOLUMES
Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal; EC 3.2.1.22). In the past, it has been difficult to give an unequivocal diagnosis of carrier status in Fabry disease because of the overlap between normal and heterozygote enzyme lev
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
The enzyme deficiency causes the intralysosomal accumulation of glycosphingolipids. The affected hemizygotes manifest acroparethesis, angiokeratoma, hypohidrosis, corneal opacities, and progressive vascular diseases of the kidney, heart, and brain. The human a-Gal A cDNA (Bishop et al., 1986) and ge