Fabry disease: enzyme replacement therap
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MR Bongiorno; G Pistone; M AricΓ²
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Article
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2003
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John Wiley and Sons
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English
β 164 KB
## ABSTRACT Fabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an Xβlinked lysosomal storage disorder caused by a deficiency of Ξ±βgalactosidaseΒ A. The enzyme defect leads to the systemic accumulation of glycosphingolipids with Ξ±βgalacto