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

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 h...

Source: Orphanet Journal of Rare Diseases - February 16, 2024 Category: Internal Medicine Authors: Shoshana Revel-Vilk, Varda Shalev, Aidan Gill, Ora Paltiel, Orly Manor, Avraham Tenenbaum, Liat Azani and Gabriel Chodick Tags: Research Source Type: research