Fabry Hastalığı: Yeni Bir Mutasyon ve Cilt Bulgulariyla Seyreden Bir Türk O

Fabry Hastalığı: Yeni Bir Mutasyon ve Cilt Bulgulariyla Seyreden Bir Türk O

Fabry hastalığı lizozomal α-galaktosidaz eksikliğine bağlı görülen, X’e bağlı kalıtılan nadir bir hastalıktır. Klinik bulgular; akroparestezi, açıklanamayan ateş, hipohidroz ve anjiyokeratomlardır. Tedavi edilmeyen vakalar erken kardiyak komplikasyonlar, renal yetmezlik veya inme nedeniyle kaybedili...

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Bibliographic Details
Main Authors:	Neslihan MUNGAN, Fatih TEMİZ, Berna YILMAZ, Mehmet ÖZBEK, Mehmet KARAKAŞ, Ali TOPALOĞLU, Bilgin YÜKSEL
Format:	Article
Language:	English
Published:	Cukurova University 2015-10-01
Series:	Cukurova Medical Journal
Subjects:	- fabry disease angiokeratoma enzyme replacement therapy fabry hastalığı anjiyokeratom enzim replasman tedavisi
Online Access:	https://dergipark.org.tr/tr/pub/cumj/issue/4207/55547?publisher=cu

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