Fabry disease (FD) is an X-linked inherited lysosomal disorder due to a deficiency of the
enzyme alpha-galactosidase A (α-gla) due to mutations in the GLA gene. These mutations …

Fabry Disease (FD), a rare and progressive, X-linked lysosomal storage disorder, is caused
by mutations in the α-galactosidase A (GLA) gene which leads to enzymatic deficiency of …

Numerous prevalence studies on Fabry disease (FD, OMIM# 301500) have been conducted
in dialysis populations across the world with variable and controversial results. The …

Introduction: Fabry disease (FD) is an inborn error of metabolism characterized by α-
galactosidase A deficiency. The primary objective was to evaluate the genetic and …

Fabry病的临床诊断及治疗进展 学术期刊 切换导航 首页 文章 期刊 投稿 预印 会议 书籍 新闻
合作 我们 按学科分类 Journals by Subject 按期刊分类 Journals by Title 核心OA期刊 Core OA …

Aim: identify the main aspects of Fabry disease (FD) from clinical suspicion to diagnosis, its
vascular and cellular effects, in addition to treatment. Methods: This study is an integrative …

Fabry disease (FD) is caused by deficiency or absence of α-galactosidase A activity, which
is a lysosomal enzyme, which substrate is globotriaosylceramide (GB3 or GL-3). Therefore …

Introdução: A doença de Fabry (DF) é um erro inato do metabolismo caracterizado pela
deficiência da enzima α-galactosidase A. O objetivo primário foi avaliar o perfil genético e …

A doença de Fabry (DF) é causada por deficiência ou ausência da atividade da α-
galactosidase A, que é uma enzima lisossomal cujo substrato é a globotriaosilceramida …

Fabry disease is a rare X-linked lysosomal storage disorder due to mutations in the GLA
gene causing the deficiency of α-galactosidase A (α-gal A). Several systems are involved in …