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Fabry disease, enzyme replacement therapy and the significance of antibody responses

✍ Scribed by Patrick B. Deegan

Publisher
Springer
Year
2011
Tongue
English
Weight
262 KB
Volume
35
Category
Article
ISSN
0141-8955

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## ABSTRACT Fabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an X‐linked lysosomal storage disorder caused by a deficiency of α‐galactosidaseΒ A. The enzyme defect leads to the systemic accumulation of glycosphingolipids with α‐galacto

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## Abstract We prospectively evaluated the effect of enzyme replacement therapy (ERT) on the intraepidermal nerve fiber density (IENFD) and thermal threshold in patients with Fabry disease, an X‐linked disorder associated with a painful small‐fiber neuropathy and decreased linear IENFD in a length‐