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Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries.
Alonso-Castellano P, Tugores A, Mariño Z, Olveira A, Berenguer M, Huarte MP, Fernández-Ramos JR, Lázaro-Ríos M, González-Diéguez ML, Moreno-Planas JM, Hernández-Guerra M, Fernández-Álvarez P, Delgado-Blanco M, Pinazo-Bandera JM, Romero M, Ampuero J, Masnou-Ridaura H, Cachero A, Vargas V, Gómez-Camarero J, Morillas-Ariño MJ, Molina-Pérez E, Miralpeix A, García-Villarreal L; Spanish Wilson Registry AEEH. Alonso-Castellano P, et al. Among authors: miralpeix a. Dig Liver Dis. 2024 Sep 24:S1590-8658(24)01000-4. doi: 10.1016/j.dld.2024.09.002. Online ahead of print. Dig Liver Dis. 2024. PMID: 39322449
Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study.
Mariño Z, Berenguer M, Peña-Quintana L, Olveira A, Miralpeix A, Sastre I, Reyes-Domínguez A, Castillo P, García-Solà C, Bono A, Romero M, Pérez-Sádaba FJ, Aceituno S, Anguera A. Mariño Z, et al. Among authors: miralpeix a. J Clin Med. 2023 Jul 21;12(14):4823. doi: 10.3390/jcm12144823. J Clin Med. 2023. PMID: 37510937 Free PMC article.
Effectiveness of a primary care-based intervention to reduce sitting time in overweight and obese patients (SEDESTACTIV): a randomized controlled trial; rationale and study design.
Martín-Borràs C, Giné-Garriga M, Martínez E, Martín-Cantera C, Puigdoménech E, Solà M, Castillo E, Beltrán AM, Puig-Ribera A, Trujillo JM, Pueyo O, Pueyo J, Rodríguez B, Serra-Paya N; SEDESTACTIV Study Group. Martín-Borràs C, et al. BMC Public Health. 2014 Mar 5;14:228. doi: 10.1186/1471-2458-14-228. BMC Public Health. 2014. PMID: 24597534 Free PMC article. Clinical Trial.