A & A case reports

A A Case Rep · ISSN (e) 2325-7237 · 1 paper in corpus
case-report 2017
doi:10.1213/XAA.0000000000000479 ·PMID:28079663

Fabry disease is an inherited X-linked disorder characterized by the absence (in men) or deficiency (in women) in α-galactosidase A activity that causes a progressive accumulation of glycosphingolipids within lysosomes of cells of all the m…