| Literature DB >> 15030345 |
G E Linthorst1, M A De Rie, K H Tjiam, J M F G Aerts, K P Dingemans, C E M Hollak.
Abstract
Generalized angiokeratoma are associated with three lysosomal storage disorders, one of which is Fabry disease (alpha-galactosidase A deficiency). Treatment for Fabry disease with supplementation of recombinant enzyme is available in the European Union and subsequently physicians' awareness may rise. A patient who was erroneously diagnosed with Fabry disease is presented.Entities:
Mesh：
Year: 2004 PMID： 15030345 DOI： 10.1046/j.1365-2133.2004.05813.x
Source DB: PubMed Journal: Br J Dermatol ISSN： 0007-0963 Impact factor: 9.302