Investigación Epidemiológica en Enfermedades Raras

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. Clin Genet. 2022 May 10; 1(5-6):481-493

Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P..

PUBMED DOI

Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects. Bone. 2012 Oct 51(4):748-55

Morales-Piga A, Bachiller-Corral J, Trujillo-Tiebas MJ, Villaverde-Hueso A, Gamir-Gamir ML, Alonso-Ferreira V, Vázquez-Díaz M, Posada de la Paz M, Ayuso-García C.

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Prevalence of dystrophic epidermolysis bullosa in Spain: a population-based study using the 3-source capture-recapture method. Evidence of a need for improvement in care. Actas Dermosifiliogr. 2013 Dec;104(10):890-6

Hernandez-Martín A, Aranegui B, Escámez MJ, de Lucas R, Vicente A, Rodríguez-Díaz E, Bernabeu-Wittel J, Gonzalez-Hermosa R, García-Patos V, Ginarte M, Mascaró JM Jr, Corredera C, Baselga E, Santiago JL, Chaves A, Román C, Evole M, Martin-Santiago A, Torrelo A, Del Río M, Feito M, Gonzalez-Enseñat MA, Romero G, Morcillo-Makow E, Abaitua I, García-Doval I.

PUBMED DOI

Overview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide. Expert Opinion on Orphan Drugs, 4(7), 729–739

López-Martín E, Thompson R, Gainotti S, Wang CM, Rubinstein Y, Taruscio D, Monaco L, Lochmüller H, Alonso-Ferreira V, Posada de la Paz M.

DOI

Investigación