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Br J Dermatol. 2004 Mar;150(3):575-7.

Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion.

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1
Department of Internal Medicine/Clinical Hematology, Academic Medical Centre, Amsterdam, the Netherlands. g.e.linthorst@amc.uva.nl

Abstract

Generalized angiokeratoma are associated with three lysosomal storage disorders, one of which is Fabry disease (alpha-galactosidase A deficiency). Treatment for Fabry disease with supplementation of recombinant enzyme is available in the European Union and subsequently physicians' awareness may rise. A patient who was erroneously diagnosed with Fabry disease is presented.

[Indexed for MEDLINE]

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