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Article

A validated disease severity scoring system for adults with type 1 Gaucher disease.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2010

Weinreb Neal J, Cappellini Maria D, Cox Timothy M, Giannini Edward H, Grabowski Gregory A, Hwu Wuh-Liang, Mankin Henry, Martins Ana Maria, Sawyer Carolyn, vom Dahl Stephan, Yeh Michael S, Zimran Ari

Abstract excerpt

PURPOSE: A validated disease severity scoring system (DS3) for Gaucher disease type 1 (GD1) is needed to standardize patient monitoring and to define patient cohorts in clinical studies. METHODS: DS3 domains were established by an expert physician group using the nominal group technique of consensus formation. Items were selected by 36 GD1 physicians. The expert group determined appropriate measurement techniques...

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PMID: 20027115
DOI: 10.1097/GIM.0b013e3181c39194

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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