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Publicaciones - Investigación en Pediatría

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Castelbon Fernandez FJ, Barreda Sanchez M, Arranz Canales E, Hernandez Contreras ME, Solares I, Morales Conejo M, Munoz Cuadrado A, Casado Gomez A, Yebenes Cortes M, Guillen Navarro E. The burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study. Med Clin (Barc). 2024 Feb 9;162(3):103-111. doi: 10.1016/j.medcli.2023.08.009. Epub 2023 Oct 12. English, Spanish. PubMed PMID: 37838536.
AÑO: 2024; IF: 2.6
Notario-Barandiaran L, Morales E, Vioque J, Martinez-Gracia C, Santaella-Pascual M, Suarez-Martinez C, Garcia-Marcos L, Karagas MR, Signes-Pastor AJ; NELA Study Group. Urinary concentrations of non-essential and essential elements during weaning in infants from the NELA cohort in Spain. Environ Res. 2024 Sep 13;263(Pt 1):119989. doi: 10.1016/j.envres.2024.119989. Online ahead of print. PubMed PMID: 39278582.
AÑO: 2024; IF: 7.7
Galan Carrillo I, Galbis Martinez L, Martinez V, Roca Merono S, Ramos F, Gonzalez Rodriguez JD, Pinero Fernandez J, Guillen Navarro E. Multidisciplinary management improves the genetic diagnosis of hereditary kidney diseases in the next generation sequencing (NGS) era. Nefrologia (Engl Ed). 2024 Jan-Feb;44(1):69-76. doi: 10.1016/j.nefroe.2024.02.002. Epub 2024 Feb 27. PubMed PMID: 38418364.
AÑO: 2024
Kuter DJ, Bonkovsky HL, Monroy S, Ross G, Guillen-Navarro E, Cappellini MD, Minder AE, Hother-Nielsen O, Ventura P, Jia G, Sweetser MT, Thapar M; ENVISION Investigators. Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial. J Hepatol. 2023 Nov;79(5):1150-1158. doi: 10.1016/j.jhep.2023.06.013. Epub 2023 Jul 20. PubMed PMID: 37479139.
AÑO: 2023; IF: 26.8
Maghnie M, Semler O, Guillen-Navarro E, Selicorni A, Heath KE, Haeusler G, Hagenas L, Merker A, Leiva-Gea A, Gonzalez VL, Raimann A, Rehberg M, Santos-Simarro F, Ertl DA, Gregersen PA, Onesimo R, Landfeldt E, Jarrett J, Quinn J, Rowell R, Pimenta J, Cohen S, Butt T, Shediac R, Mukherjee S, Mohnike K. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study. Orphanet J Rare Dis. 2023 Mar 15;18(1):56. doi: 10.1186/s13023-023-02652-2. PubMed PMID: 36922864; PubMed Central PMCID: PMC10015810.
AÑO: 2023; IF: 3.4
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