Fabry's disease

• Verfasst von: Schiffmann, Raphael [VerfasserIn]
• Verfasst von: Ries, Markus [VerfasserIn]
• Titel: Fabry's disease
• Titelzusatz: an important risk factor for stroke
• Verf.angabe: Raphael Schiffmann, Markus Ries
• E-Jahr: 2005
• Jahr: November 09, 2005
• Umfang: 3 S.
• Fussnoten: Gesehen am 08.05.2019
• Titel Quelle: Enthalten in: The lancet <London>
• Ort Quelle: London [u.a.] : Elsevier, 1823
• Jahr Quelle: 2005
• Band/Heft Quelle: 366(2005), 9499, Seite 1754-1756
• ISSN Quelle: 1474-547X
• DOI: doi:10.1016/S0140-6736(05)67636-2
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1665011084

Abstract

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.