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Helena Gil-Peña Sara Chocron Leire Madariaga Francisco de la Cerda-Ojeda Marta Fernández-Fernández Carmen de Lucas-Collantes Marta Gil Mª Isabel Luis-Yanes Inés Vergara Juan David González-Rodríguez Susana Ferrando Montserrat Antón Gamero Marta Carrasco Hidalgo-Barquero Angustias Fernández-Escribano Mº Ángeles Fernández-Maseda Laura Espinosa Aniana Oliet Antonio Vicente Gema Ariceta Fernando Santos 10.1186/s13023-021-01729-0 2010-04-23 true springer.com springerlink.com https://doi.org/10.1186/s13023-021-01729-0 10.1186/s13023-021-01729-0 1750-1172 journal Orphanet Journal of Rare Diseases The Author(s) 2010-04-23 true 10.1186/s13023-021-01729-0 noindex springer.com springerlink.com uuid:226a03e4-e5a7-4d39-8ceb-e9efa9c58ec3 uuid:44ca3c52-0a0e-4056-b91e-dc968571d439 default 1 converted uuid:226a03e4-e5a7-4d39-8ceb-e9efa9c58ec3 converted to PDF/A-2b pdfToolbox 2021-02-22T16:11:17Z 2 B Enrique Rodríguez-Rubio http://orcid.org/0000-0002-3233-2283 http://ns.adobe.com/pdfx/1.3/ pdfx Adobe 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