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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Ocular motility disorders in a patient with Fabry's disease]
B Fiore1, M Klopfer, C Schwebig
1Augenklinik der Technischen Universität München, München, Deutschland. Bianca.Fiore@lrz.tum.de
Abstract:
Fabry's disease (FD) is a rare lysosomal storage disorder. Early cerebral manifestations are a major and often life-threatening burden of the disease. We present a 38-year-old male FD patient with a prior history of six different episodes of stroke and newly developing ocular disorders. He presented with nystagmus with different wave forms and directions and blepharospasm as well as cornea verticillata.
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