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

  • Published on 03/29/2024
  •  Reading time: 5 min.

Revel-Vilk Shoshana 1,2,3, Shalev Varda 4, Gill Aidan 5, Paltiel Ora 2,3,6, Manor Orly 3, Tenenbaum Avraham 4, Azani Liat 7, Chodick Gabriel 4,7

1 Gaucher Unit Shaare Zedek Medical Center Jerusalem Israel
2 Faculty of Medicine Hebrew University Jerusalem Israel
3 Braun School of Public Health and Community Medicine Hebrew University Jerusalem Israel
4 Sackler School of Medicine Tel Aviv University Tel Aviv Israel
5 Takeda Pharmaceuticals International AG Zurich Switzerland
6 Department of Hematology Hadassah Medical Organization Jerusalem Israel
7 MaccabiTech Maccabi Healthcare Services Tel Aviv Israel


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 2 and 3) of neurological signs. Early diagnosis can reduce the likelihood of severe, often irreversible complications. The aim of this study was to validate the ability of factors...


To continue reading this article in Full-Text...

* Access is totally free, without commitment or condition. Service exclusively reserved for healthcare professionals.

Peer-Reviewed Journals A-Z

Search | Advanced search

Get the latest news in Rare Diseases

Receive our newsletter to stay up to date with the latest news in Rare Diseases

More articles

From peer-reviewed journals in Rare Diseases