GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia

GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia

Abstract Background Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatric population and the presence, if any, of novel cl...

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Bibliographic Details
Main Authors: Andrea Pession, Maja Di Rocco, Francesco Venturelli, Barbara Tappino, William Morello, Nicola Santoro, Paola Giordano, Beatrice Filippini, Simona Rinieri, Giovanna Russo, Katia Girardi, Antonio Ruggiero, Eulalia Galea, Roberto Antonucci, Nicola Tovaglieri, Fulvio Porta, Immacolata Tartaglione, Fiorina Giona, Franca Fagioli, Alberto Burlina, Pediatric Gaucher Study Group
Format: Article
Language:English
Published: BMC 2023-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Gaucher disease
Lysosomal storage disease
Splenomegaly
Cytopenia
Thrombocytopenia
Online Access:https://doi.org/10.1186/s13023-023-02760-z

Internet

https://doi.org/10.1186/s13023-023-02760-z

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