Fabry's disease: long-term study of a family

Fabry's disease is the second most prevalent lysosomal storage disorder after Gaucher's disease. It occurs as the result of a deficit in the α-galactosidase A enzyme. The gene coding for it is located on the long arm of the X chromosome (Xq22.1). This deficit causes the gradual accumulatio...

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Veröffentlicht in:	European Journal of Internal Medicine 2004-07, Vol.15 (4), p.210-215
Hauptverfasser:	Arias Martı́nez, N, Barbado Hernández, F.J, Garcı́a Consuegra, J, López Rodrı́guez, M, Gil Guerrero, L, Gómez-Cerezo, J, Casal Esteban, V, Vázquez Rodrı́guez, J.J
Format:	Artikel
Sprache:	eng
Schlagworte:	Angiokeratomas Fabry's disease Replacement therapy α-Galactosidase A
Online-Zugang:	Volltext
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