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Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease.

Abstract:

BACKGROUND: Anderson-Fabry disease (AFD) is a disorder of glycosphingolipid metabolism resulting from deficiency of α-galactosidase A and accumulation of globotriaosylceramide. Presentation is heterogeneous and, despite guidelines for initiation of therapy, there is no basis for defining subgroups that will progress more rapidly, whether treated or not. The authors of this study used clinical and pathological data recorded on 1483 patients in the Fabry Outcome Survey, a large international r...

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Publication status:
Published

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Authors


Hughes, DA More by this author
Malmenäs, M More by this author
Deegan, PB More by this author
Elliott, PM More by this author
Ginsberg, L More by this author
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Journal:
Journal of medical genetics
Volume:
49
Issue:
3
Pages:
212-220
Publication date:
2012-03-05
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
URN:
uuid:1b450873-ef43-49f6-a6d4-fc8023d7ec0e
Source identifiers:
314126
Local pid:
pubs:314126

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