𝔖 Bobbio Scriptorium
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P400 Fabry disease — a family under study and treatment

✍ Scribed by L. Brito Avo; J. Ducla Soares; A. Palma Carlos


Book ID
117644905
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
289 KB
Volume
14
Category
Article
ISSN
0953-6205

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## Abstract Fabry disease is an X‐linked lysosomal disorder that results from a deficiency of the lysosomal enzyme α‐galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical man