Prevalence of Fabry Disease in a Cohort of 1000 Young Patients With Cerebrovascular Disease
نویسندگان
چکیده
Raf Brouns, MD, PhD; Vincent Thijs, MD, PhD; François Eyskens, MD, PhD; Marleen Van den Broeck, BSc; Shibeshih Belachew, MD, PhD; Christine Van Broeckhoven, PhD, DSc; Patricia Redondo, MD, PhD; Dimitri Hemelsoet, MD; Arnaud Fumal, MD, PhD; Sandrine Jeangette, MD, PhD; Werner Verslegers, MD; Robert Baker, BSc, MSc AIB, MS; Derralynn Hughes, MD, PhD; Peter Paul De Deyn, MD, PhD; for the BeFaS Investigators*
منابع مشابه
Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.
BACKGROUND AND PURPOSE Data on the prevalence of Fabry disease in patients with central nervous system pathology are limited and controversial. In this study, we assessed the prevalence of Fabry disease in young patients presenting with cerebrovascular disease in Belgium. METHODS In this national, prospective, multicenter study, we screened for Fabry disease in 1000 patients presenting with i...
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Fabry disease is a rare, inherited disease with lack of the enzyme alpha-galactosidase A (α-Gal) in the cells of the body that participates in the breakdown of fat. The disease begins in early childhood, progresses slowly throughout life and results in severe damage of the kidneys, heart and central nervous system. The disease is life-threatening and if left untreated, death ...
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Anderson-Fabry which is also known as Fabry disease is an X-linked recessive enzyme deficiency disorder. Its clinical manifestations are caused by storage of sphingolipids in the lysosomes of the endothelial, perithelial, and smooth muscle cells, which is due to alpha galactosidase A enzyme deficiency. Its hallmark dermatological manifestation is diffuse angiokeratomas known as ...
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