## ABSTRACT Fabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an Xโlinked lysosomal storage disorder caused by a deficiency of ฮฑโgalactosidaseย A. The enzyme defect leads to the systemic accumulation of glycosphingolipids with ฮฑโgalacto
โฆ LIBER โฆ
Enzyme replacement therapy in an adolescent with Fabry disease
โ 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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## 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 Xโlinked disorder associated with a painful smallโfiber neuropathy and decreased linear IENFD in a lengthโ
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