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Updated: Jul 6, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Classical type of Fabry disease without angiokeratomas--a case report]
Boris Kudumija1, Mirando Mrsić, Sonja Dits
1Poliklinika za internu medicinu i dijalizu Avitum, Zagreb. bkudumija@avitum.hr
Abstract:
A patient with classical type of Fabry disease is described. The appearance and character of neuropathic pain during hemodyalisis is described. Characteristic changes in head shape and changes of hands and fingers are the additional phenotypic characteristics of Fabry disease. Enzyme replacement therapy administered in the early phase of the disease could prevent disease complications and early patient's death.
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