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Enzyme replacement therapy in an adolescent with Fabry disease

โœ Scribed by Sabine Illsinger; Thomas Luecke; Hendrik Langen; Anibh M. Das


Publisher
Springer
Year
2003
Tongue
English
Weight
154 KB
Volume
162
Category
Article
ISSN
0340-6997

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๐Ÿ“œ SIMILAR VOLUMES


Fabry disease: enzyme replacement therap
โœ MR Bongiorno; G Pistone; M Aricรฒ ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 164 KB

## 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

Enzyme replacement therapy and intraepid
โœ Raphael Schiffmann; Peter Hauer; Barbara Freeman; Markus Ries; Leland J. C. Scot ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 88 KB

## 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€