Literature DB >> 18383742

[Classical type of Fabry disease without angiokeratomas--a case report].

Boris Kudumija1, Mirando Mrsić, Sonja Dits, Vesna Matijević, Sigmund Thune, Ksenija Bozina.   

Abstract

A patient with classical type of Fabry disease is described. The appearance and character of neuropathic pain during hemodyalisis is described. Characteristic changes in head shape and changes of hands and fingers are the additional phenotypic characteristics of Fabry disease. Enzyme replacement therapy administered in the early phase of the disease could prevent disease complications and early patient's death.

Entities:  

Mesh:

Year:  2007        PMID: 18383742

Source DB:  PubMed          Journal:  Lijec Vjesn        ISSN: 0024-3477


  1 in total

1.  Rare diseases in Croatia--lesson learned from Anderson-Fabry disease.

Authors:  Mirando Mrsić; Marin Nola
Journal:  Croat Med J       Date:  2008-10       Impact factor: 1.351

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.