Search Results - Gutierrez Solana, L.G

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  1. 1
    Targeted next generation sequencing in patients with infantile bilateral striatal necrosis

    Targeted next generation sequencing in patients with infantile bilateral striatal necrosis by Ortigoza-Escobar, Juan Dario, Marti-Sanchez, Laura, Molero-Luis, Marta, Aviles, Carles, Baide, Heidy, Muchart, Jordi, Rebollo, Monica, Crow, Yannick J, Cabrera-Lopez, J.C, Madruga-Garrido, Marcos, Alonso-Luengo, Olga, Quijada-Fraile, Pilar, Martin-Hernandez, Elena, Garcia-Silva, Maria Teresa, Cerisola, Alfredo, Velazquez-Fragua, Ramon, Schuler, Elisabeth, Lopez-Laso, Eduardo, Gutierrez Solana, L.G

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  2. 2
    Quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase deficiency (PMM2-CDG)

    Quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase deficiency (PMM2-CDG) by Serrano, N.L, Cuadras, D, de Diego, V, Martínez-Monseny, A.F, Velázquez-Fragua, R, López, L, Felipe, A, Miranda, M.C, Carratala, F, Couce, M.L, Gutierrez-Solana, L.G, Macaya, A, Muchart, J, Montero, R, Artuch, R, Pérez-Cerdá, C, Pérez, B, Itzep, D, Pérez-Dueñas, B, Serrano, M

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  3. 3
    First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)

    First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS... by Alcalde-Martín, C, Muro-Tudelilla, J.M, Cancho-Candela, R, Gutiérrez-Solana, L.G, Pintos-Morell, G, Martí-Herrero, M, Munguira-Aguado, P, Galán-Gómez, E

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  4. 4
    Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

    Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) by Serrano, M, de Diego, V, Martínez-Montseny, A.F, Cuadras, D, Muchart, J, Velázquez-Fragua, R, López, L, Gutiérrez-Solana, L.G, Felipe, A, Macaya, A, Cancho, R, Carrasco, M.Ll, Carratalá, F, Miranda, M.C, Lopez-Laso, E, Sierra-Córcoles, M.C, Couce, M.L, Quijada-Fraile, P, García, O, Pérez-Dueñas, B, Poretti, A

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  5. 5
    The view of experts on initiatives to be undertaken to promote equity in the access to orphan drugs and specialised care for rare diseases in Spain: A Delphi consensus

    The view of experts on initiatives to be undertaken to promote equity in the access to orphan drugs and specialised care for rare diseases in Spain: A Delphi consensus by Torrent-Farnell, J., Comellas, M., Poveda, J.L., Abaitua, I., Gutiérrez-Solana, L.G., Pérez-López, J., Cruz, J., Urcelay, J., Lizán, L.

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