Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data

Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data

Abstract Background Gaucher disease (GD) is a rare autosomal recessive condition associated with clinical features such as splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone abnormalities. Three clinical forms of GD have been defined based on the absence (type 1, GD1) or presence (types...

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Bibliographic Details
Main Authors: Shoshana Revel-Vilk, Varda Shalev, Aidan Gill, Ora Paltiel, Orly Manor, Avraham Tenenbaum, Liat Azani, Gabriel Chodick
Format: Article
Language:English
Published: BMC 2024-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Gaucher disease
Algorithm
Early diagnosis
Real-world data
Gaucher earlier diagnosis consensus scoring system
Online Access:https://doi.org/10.1186/s13023-024-03042-y

Internet

https://doi.org/10.1186/s13023-024-03042-y

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