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

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 clinical o...

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Detalles Bibliográficos
Autores principales: Pession, Andrea, Di Rocco, Maja, Venturelli, Francesco, Tappino, Barbara, Morello, William, Santoro, Nicola, Giordano, Paola, Filippini, Beatrice, Rinieri, Simona, Russo, Giovanna, Girardi, Katia, Ruggiero, Antonio, Galea, Eulalia, Antonucci, Roberto, Tovaglieri, Nicola, Porta, Fulvio, Tartaglione, Immacolata, Giona, Fiorina, Fagioli, Franca, Burlina, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10273721/
https://www.ncbi.nlm.nih.gov/pubmed/37328863
http://dx.doi.org/10.1186/s13023-023-02760-z

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