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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| Hauptverfasser: | , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2005/09/01
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| In: |
Medicine
Year: 2005, Jahrgang: 84, Heft: 5, Pages: 261-268 |
| ISSN: | 1536-5964 |
| DOI: | 10.1097/01.md.0000178976.62537.6b |
| Online-Zugang: | Verlag, Volltext: https://doi.org/10.1097/01.md.0000178976.62537.6b
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| Verfasserangaben: | Surya Gupta, MD, Markus Ries, MD, MHSc, Steven Kotsopoulos, BS, and Raphael Schiffmann, MD |
| Zusammenfassung: | 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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| Beschreibung: | Gesehen am 16.05.2019 |
| Beschreibung: | Online Resource |
| ISSN: | 1536-5964 |
| DOI: | 10.1097/01.md.0000178976.62537.6b |