F
F. Traverso
Publications - 1
Citations - 35
F. Traverso is an academic researcher. The author has contributed to research in topics: Sialidosis & NEU1. The author has an hindex of 1, co-authored 1 publications receiving 31 citations.
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Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients
Anna Caciotti,M. Di Rocco,Mirella Filocamo,Serena Grossi,F. Traverso,Alessandra d'Azzo,Catia Cavicchi,A. Messeri,Renzo Guerrini,Enrico Zammarchi,Maria Alice Donati,Amelia Morrone +11 more
TL;DR: The genetic characterization of two patients with Type II sialidosis exhibiting the congenital (P1) and infantile forms (P2) showed one known NEU1 missense mutation, and the new c.807 + 1G > A splicing defect (detected in P1), a genetic lesion that is extremely rare in this disease.