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GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.
Pession A, Di Rocco M, Venturelli F, Tappino B, Morello W, Santoro N, Giordano P, Filippini B, Rinieri S, Russo G, Girardi K, Ruggiero A, Galea E, Antonucci R, Tovaglieri N, Porta F, Tartaglione I, Giona F, Fagioli F, Burlina A; Pediatric Gaucher Study Group. Pession A, et al. Orphanet J Rare Dis. 2023 Jun 16;18(1):151. doi: 10.1186/s13023-023-02760-z. Orphanet J Rare Dis. 2023. PMID: 37328863 Free PMC article.
MATERIALS AND METHODS: DBS samples were collected and tested for beta-glucocerebrosidase enzyme activity for 154 patients selected through the algorithm proposed by Di Rocco et al. Patients showing beta-glucocerebrosidase activity below normal values were recalled to confi …
MATERIALS AND METHODS: DBS samples were collected and tested for beta-glucocerebrosidase enzyme activity for 154 patients selected through t …