- Abstract:
-
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder in which deficiency of α-Galactosidase A (α-Gal A), leads to accumulation of glycosphingolipids in the vascular endothelium, kidneys and heart. Males with classical disease present in childhood, however some individuals with low levels of α-Gal A activity present atypically with adult onset renal impairment. Screening studies in patients with established end-stage renal failure (ESRF) suggest that up to 1.5% of patients have...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.5414/CNP75506
-
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- Journal:
- Clinical nephrology
- Volume:
- 75
- Issue:
- 6
- Pages:
- 506-510
- Publication date:
- 2011-06-05
- DOI:
- ISSN:
-
0301-0430
- URN:
-
uuid:a07b9f7b-4979-4c61-9451-0cb97db5f29c
- Source identifiers:
-
476547
- Local pid:
- pubs:476547
- Language:
- English
- Keywords:
- Copyright date:
- 2011
Journal article
Fabry disease: results of the first UK hemodialysis screening study.
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