Fabry sendromu/hastalığı
Angiokeratoma corporis diffusum
Anderson-Fabry hastalığı
Kalıtsal - XL
Metabolik sendrom
Genel gelişme geriliği
Burun mukozası angiokeratomalarında epistaksis
Korneada opasite alanları
Retinada mikroanevrizmalar
Saç/sakal seyrek
Ağız mukozasında simetrik nokta/makül/papül biçiminde angiokeratomalar (alt dudak, yanak, dişeti)
Gingival hiperplazi (granülomlu yangı)
Myokard infarktı
Konjestif kalp yetmezliği
Kalp kapak sorunları
Hipertansiyon ve komplikasyonları
Kronik renal yetmezlik
Ekstremitelerde güçlü ağrı atakları (akroparestezi)
Deride angiokeratomalar
Terleme bozuklukları
-
Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Annals of Internal Medicine, 138:338–346, 2003
-
Deegan PB, Baehner AF, Barba Romero MA, et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. Journal of Medical Genetics, 43(4):347-352, 2006
-
Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. Journal of Inherited Metabolic Disease, 30:184–192, 2007
-
Hoffmann B, Mayatepek E. Fabry Disease - often seen, rarely diagnosed. Deutsches Ärzteblatt International, 106(26), 440–447, 2009
-
Schiffmann R. Fabry disease. Pharmacology & Therapeutics, 122: 65-77, 2009
-
Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011
-
Germain DP, Charrow J, Desnick RJ, et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. Journal of Medical Genetics, 52: 353-358, 2015