Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes by Giulia Del Medico, Lorenzo Ferri, Elena Procopio, Giosuè Annibalini, Elena Barbieri, Elena Barbieri, Rita Barone, Rita Barone, Renzo Guerrini, Renzo Guerrini, Amelia Morrone, Amelia Morrone, Stefano Stagi, Stefano Stagi

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POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report by Caterina Angela Florio, Federica Mirabella, Adriana Prato, Andrea Longhitano, Rita Barone, Renata Rizzo

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Clinical and Behavioral Correlates of Blood Acylcarnitine Profiles in Children with Autism Spectrum Disorder: A Cross-Sectional Analysis by Adriana Prato, Martina Randazzo, Maria Anna Messina, Giovanni Puglisi, Laura Rosy Aleo, Fiorella Ciantia, Lara Cirnigliaro, Renata Rizzo, Rita Barone

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MAN2A2-related glycosylation defects in autism and cognitive delay by Simone Treccarichi, Mirella Vinci, Lara Cirnigliaro, Angela Messina, Angelo Palmigiano, Fabio Pettinato, Antonino Musumeci, Valeria Chiavetta, Salvatore Saccone, Luisa Sturiale, Francesco Calì, Rita Barone

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Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation by Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, Dries Verdegem, Christian Thiel, Rita Barone, Mercedes Serrano, Tomáš Honzík, Eva Morava, Pieter Vermeersch, François Foulquier, Willy Morelle, Johannes V. Swinnen, Daisy Rymen, David Cassiman, Bart Ghesquière, Peter Witters

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Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG by Renata Mangione, Lara Cirnigliaro, Miriam Wissam Saab, Fabio Pettinato, Alessandro Barbato, Alfio Distefano, Enrico La Spina, Giuseppe Lazzarino, Giovanni Li Volti, Lucia Longhitano, Daniele Tibullo, Alessandra Pittalà, Cesarina Giallongo, Valentina Di Pietro, Giovanni Tabbi, Salvatore Antonio Longo, Andrea Graziani, Barbara Tavazzi, Angela Maria Amorini, Giacomo Lazzarino, Rita Barone

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