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Fabry disease: Kidney involvement and enzyme replacement therapy

โœ Scribed by Siamopoulos, Kostas C.

Book ID
109065322
Publisher
Nature Publishing Group
Year
2004
Tongue
English
Weight
139 KB
Volume
65
Category
Article
ISSN
0085-2538

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๐Ÿ“œ SIMILAR VOLUMES

Fabry disease: enzyme replacement therap
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## ABSTRACT Fabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an Xโ€linked lysosomal storage disorder caused by a deficiency of ฮฑโ€galactosidaseย A. The enzyme defect leads to the systemic accumulation of glycosphingolipids with ฮฑโ€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 Xโ€linked disorder associated with a painful smallโ€fiber neuropathy and decreased linear IENFD in a lengthโ€