Zobrazeno 1 - 4 of 4 pro vyhledávání: '"Senay Rueda-Nieto"'
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Akademický článek
Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry
Autor: Senay Rueda-Nieto, Pedro Mondejar-Lopez, María-Pilar Mira-Escolano, Ana Cutillas-Tolín, Luis Alberto Maceda-Roldán, Julián Jesús Arense-Gonzalo, Joaquín A. Palomar-Rodríguez
Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Cystic fibrosis (CF) has a vast and heterogeneous mutational spectrum in Europe. This variability has also been described in Spain, and there are numerous studies linking CFTR variants with the symptoms of the disease. Most of the
Externí odkaz: https://doaj.org/article/0cff6c0c626b44cba0eb64b18071ba8f
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2
Predictive factors of survival in people with cystic fibrosis from a Spanish rare disease registry
Autor: Senay Rueda-Nieto, Pedro Mondejar-Lopez, María-Pilar Mira-Escolano, Ana Cutillas-Tolín, Luis-Alberto Maceda-Roldán, Julián-Jesús Arense-Gonzalo, Joaquín-A. Palomar-Rodríguez
Background:Cystic fibrosis (CF) is the most common multisystem, chronic, and life-threatening rare disease in the Caucasian population. Progressive loss of lung function remains the leading cause of death. However, improvementsin prognosis and surviv
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::00b4dd795179d0393f963a394ffaadb4
https://doi.org/10.21203/rs.3.rs-2842798/v1
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