Fabry's disease: an important risk factor for stroke

In today's Lancet, Arndt Rolfs and colleagues describe the prevalence of Fabry's disease - (MIM 301500, α-galactosidase A mutations) in a large cohort of patients with cryptogenic - stroke.1 Fabry's disease is an under-recognised single-gene defect caused by α-galactosidase - A defici...

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Bibliographic Details
Main Authors: Schiffmann, Raphael (Author) , Ries, Markus (Author)
Format: Article (Journal)
Language:English
Published: November 09, 2005
In: The lancet
Year: 2005, Volume: 366, Issue: 9499, Pages: 1754-1756
ISSN:1474-547X
DOI:10.1016/S0140-6736(05)67636-2
Online Access:Verlag, Volltext: https://doi.org/10.1016/S0140-6736(05)67636-2
Verlag, Volltext: https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(05)67636-2/abstract
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Author Notes:Raphael Schiffmann, Markus Ries
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Summary:In today's Lancet, Arndt Rolfs and colleagues describe the prevalence of Fabry's disease - (MIM 301500, α-galactosidase A mutations) in a large cohort of patients with cryptogenic - stroke.1 Fabry's disease is an under-recognised single-gene defect caused by α-galactosidase - A deficiency, which results in a failure to catabolise α-D-galactosyl glycolipid moieties. - Increased concentrations of glycolipid are a risk factor for cardiomyopathy, cardiac - conduction abnormalities, valvular defects, coronary artery disease, renal failure, - and stroke.
Item Description:Gesehen am 08.05.2019
Physical Description:Online Resource
ISSN:1474-547X
DOI:10.1016/S0140-6736(05)67636-2