Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

by Guillem Pintos-Morell, Javier Blasco-Alonso, María L. Couce, Luís G. Gutiérrez-Solana, Encarna Guillén-Navarro, Mar O'Callaghan, Mireia del Toro
Published 2018-06-01

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

by Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium
Published 2017-09-01

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

by Gloria Muñoz, David García‐Seisdedos, Crina Ciubotariu, Miguel Piris‐Villaespesa, Marta Gandía, Fernando Martín‐Moro, Luis G. Gutiérrez‐Solana, Marta Morado, Javier López‐Jiménez, Antonio Sánchez‐Herranz, Jesús Villarrubia, Francisco J. delCastillo
Published 2020-01-01

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

by Mercè Izquierdo-Serra, Antonio F. Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G. Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M. Fernández-Fernández, Mercedes Serrano
Published 2018-02-01