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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
Published 2025-07-01Get full text
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Exploring Multivalent Architectures for Binding and Stabilization of <i>N</i>-Acetylgalactosamine 6-Sulfatase by Maria Giulia Davighi, Francesca Clemente, Giampiero D’Adamio, Macarena Martínez-Bailén, Alessio Morano, Andrea Goti, Amelia Morrone, Camilla Matassini, Francesca Cardona
Published 2025-05-01Get full text
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Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS... by Federica Feo, Silvia Falliano, Anna Caciotti, Marina Rinaldi, Alessia Caroli, Laura Giunti, Martino Calamai, Elena Procopio, Renzo Guerrini, Amelia Morrone, Rodolfo Tonin
Published 2025-09-01Get full text
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Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies by Serena Catarzi, Anna Caciotti, Janita Thusberg, Rodolfo Tonin, Sabrina Malvagia, Giancarlo la Marca, Elisabetta Pasquini, Catia Cavicchi, Lorenzo Ferri, Maria A. Donati, Federico Baronio, Renzo Guerrini, Sean D. Mooney, Amelia Morrone
Published 2013-01-01Get full text
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GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region by Rodolfo Tonin, Silvia Ramat, Marina Rinaldi, Silvia Falliano, Federica Feo, Francesca Cardona, Camilla Matassini, Guido Mannaioni, Giulia Grigioni, Luca Caremani, Alessandra Govoni, Maria Luisa Della Bona, Giancarlo la Marca, Renzo Guerrini, Amelia Morrone
Published 2025-01-01Get full text
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Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program by Sabrina Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo Mura, Silvia Funghini, Daniela Ombrone, Giulia Forni, Emanuela Scolamiero, Filippo Coppi, Roberta Damiano, Cristina Cereda, Simonetta Simonetti, Annalisa Lonetti, Marta Daniotti, Anna Caciotti, Amelia Morrone, Valeria Calbi, Francesca Fumagalli, Alessandro Aiuti, Elena Procopio, Renzo Guerrini, Giancarlo la Marca
Published 2025-04-01Get full text
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