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Fabry disease: results of the first UK hemodialysis screening study.

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...

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Publication status:
Published

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Publisher copy:
10.5414/CNP75506

Authors


Wallin, EF More by this author
Clatworthy, MR More by this author
Pritchard, NR More by this author
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

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