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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 re...

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Journal:
Journal of Medical Genetics More from this journal
Volume:
49
Issue:
3
Pages:
212-220
Publication date:
2012-03-01
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
Language:
English
Pubs id:
pubs:329864
UUID:
uuid:ce277b80-a936-4463-8df3-396c5738624b
Local pid:
pubs:329864
Source identifiers:
329864
Deposit date:
2013-02-20

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