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Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort
González-Meneses López, Antonio; Pineda, Mercè; Bandeira, Anabela; Janeiro, Patrícia; Ruiz, María Ángeles; Diogo, Luisa; Cancho-Candela, Ramón (BMC, 2021-10-22)Background Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited ...