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Journal article

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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Journal:
Journal of medical genetics
Volume:
49
Issue:
3
Pages:
212-220
Publication date:
2012-03-01
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
Source identifiers:
314126
Language:
English
Keywords:
Pubs id:
pubs:314126
UUID:
uuid:1b450873-ef43-49f6-a6d4-fc8023d7ec0e
Local pid:
pubs:314126
Deposit date:
2013-02-20

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