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The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease

Abstract:Fabry disease is a rare X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A (α-Gal A) resulting in the storage of glycosphingolipids, especially globotriaosylceramide (Gb3), in cells throughout the body, causing life-threatening renal, cardiac, and cerebrov...

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Bibliographic Details
Main Authors: Gupta, Surya N. (Author) , Ries, Markus (Author) , Kotsopoulos, Steven (Author) , Schiffmann, Raphael (Author)
Format: Article (Journal)
Language:English
Published: 2005/09/01
In: Medicine
Year: 2005, Volume: 84, Issue: 5, Pages: 261-268
ISSN:1536-5964
DOI:10.1097/01.md.0000178976.62537.6b
Online Access:Verlag, Volltext: https://doi.org/10.1097/01.md.0000178976.62537.6b
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Author Notes:Surya Gupta, MD, Markus Ries, MD, MHSc, Steven Kotsopoulos, BS, and Raphael Schiffmann, MD
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Summary:Abstract:Fabry disease is a rare X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A (α-Gal A) resulting in the storage of glycosphingolipids, especially globotriaosylceramide (Gb3), in cells throughout the body, causing life-threatening renal, cardiac, and cerebrov
Item Description:Gesehen am 16.05.2019
Physical Description:Online Resource
ISSN:1536-5964
DOI:10.1097/01.md.0000178976.62537.6b

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