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Article

A validated disease severity scoring system for Fabry disease.

Molecular genetics and metabolism - 1 Mar 2010

Giannini Edward H, Mehta Atul B, Hilz Max J, Beck Michael, Bichet Daniel G, Brady Roscoe O, West Michael, Germain Dominique P, Wanner Christoph, Waldek Stephen, Clarke Joe T R, Mengel Eugen, Strotmann Jörg M, Warnock David G, Linhart Ales

Abstract excerpt

Fabry disease is a lysosomal storage disorder with onset of adverse signs and symptoms usually during childhood and progressive life-threatening decline in organ functions. A validated and feasible Fabry disease severity scoring system (DS3) is needed to reliably quantify the disease burden, moni...

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Source

Identifiers

PMID: 19951842
DOI: 10.1016/j.ymgme.2009.10.178

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19951842-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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