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Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia by Francesca Pirozzi, Ramin Amiri, Camilla Luni, Alessandro Rossi, Daniela Melis, Roberta Fedele, Carmen Rosano, Pietro Strisciuglio, Maaike H. Oosterveer, Terry G. J. Derks, Giancarlo Parenti, Marianna Caterino, Margherita Ruoppolo
Published 2025-07-01Get full text
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Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome by Elisabetta Toriello, Rosa Maritato, Antonio De Rosa, Maria Valeria Esposito, Carla Damiano, Carla Damiano, Carmen Rosano, Emilia Cirillo, Antonietta Tarallo, Antonietta Tarallo, Cosimo Abagnale, Francesca Cillo, Roberta Romano, Laura Grilli, Marika Comegna, Marika Comegna, Giancarlo Blasio, Giancarlo Parenti, Giancarlo Parenti, Enrico Maria Surace, Giuseppe Castaldo, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino
Published 2025-01-01Get full text
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