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- Title
Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries.
- Authors
Kelmann, Samantha Vernaschi; Quaio, Caio Robledo D'Angioli Costa; Honjo, Rachel Sayuri; Bertola, Debora Romeo; Rosa Neto, Nilton Salles; Lourenço, Charles Marques; d'Almeida, Vânia; Lellis, Rute Facchini; Rivitti‐Machado, Maria Cecília; Enokihara, Milvia Maria Simões e Silva; Michalany, Nilceo S; Kim, Chong Ae
- Abstract
The article reports on a study which examined the prevalence of Fabry's disease (FD) in patients presenting with angiokeratoma diagnosed by histopathological study. Topics discussed include the enzymatic activity of alpha-galactosidase A, dermatological manifestation of FD and the frequency of FD in cases of hemodialysis, hypertrophic cardiomyopathy and cryptogenic stroke. The importance of an early diagnosis of FD is cited.
- Subjects
ANGIOKERATOMA corporis diffusum; DISEASE prevalence; ALPHA-galactosidase; CUTANEOUS manifestations of general diseases; SKIN diseases; HISTOPATHOLOGY
- Publication
International Journal of Dermatology, 2015, Vol 54, Issue 6, pe241
- ISSN
0011-9059
- Publication type
Article
- DOI
10.1111/ijd.12713