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143 results

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Page 1
A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain).
Sánchez-Villalobos M, Campos Baños E, Juan Fita MJ, Egea Mellado JM, Gonzalez Gallego I, Beltrán Videla A, Berenguer Piqueras M, Bermúdez Cortés M, Moraleda Jiménez JM, Guillen Navarro E, Salido Fierrez E, Pérez-Oliva AB. Sánchez-Villalobos M, et al. Among authors: guillen navarro e. Int J Neonatal Screen. 2023 Oct 10;9(4):55. doi: 10.3390/ijns9040055. Int J Neonatal Screen. 2023. PMID: 37873846 Free PMC article.
Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial.
Kuter DJ, Bonkovsky HL, Monroy S, Ross G, Guillén-Navarro E, Cappellini MD, Minder AE, Hother-Nielsen O, Ventura P, Jia G, Sweetser MT, Thapar M; ENVISION Investigators. Kuter DJ, et al. Among authors: guillen navarro e. J Hepatol. 2023 Nov;79(5):1150-1158. doi: 10.1016/j.jhep.2023.06.013. Epub 2023 Jul 20. J Hepatol. 2023. PMID: 37479139 Free article.
A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain.
Zozaya N, Caballero T, González-Quevedo T, Setien PG, González MÁ, Jódar R, Poveda-Andrés JL, Guillén-Navarro E, Cuadrado AR, Hidalgo-Vega Á. Zozaya N, et al. Among authors: guillen navarro e. Glob Reg Health Technol Assess. 2022 Jan 25;9:14-21. doi: 10.33393/grhta.2022.2333. eCollection 2022 Jan-Dec. Glob Reg Health Technol Assess. 2022. PMID: 36628319 Free PMC article.
The burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study.
Castelbón Fernández FJ, Barreda Sánchez M, Arranz Canales E, Hernández Contreras ME, Solares I, Morales Conejo M, Muñoz Cuadrado Á, Casado Gómez A, Yébenes Cortés M, Guillén Navarro E. Castelbón Fernández FJ, et al. Among authors: guillen navarro e. Med Clin (Barc). 2024 Feb 9;162(3):103-111. doi: 10.1016/j.medcli.2023.08.009. Epub 2023 Oct 12. Med Clin (Barc). 2024. PMID: 37838536 English, Spanish.
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
Irving M, AlSayed M, Arundel P, Baujat G, Ben-Omran T, Boero S, Cormier-Daire V, Fredwall S, Guillen-Navarro E, Hoyer-Kuhn H, Kunkel P, Lampe C, Maghnie M, Mohnike K, Mortier G, Sousa SB. Irving M, et al. Among authors: guillen navarro e. Orphanet J Rare Dis. 2023 Jul 27;18(1):219. doi: 10.1186/s13023-023-02795-2. Orphanet J Rare Dis. 2023. PMID: 37501185 Free PMC article.
Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia.
Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, Grange DK, Norton ME, Cavalli R, Tadini G, Stepan H, Clarke A, Guillén-Navarro E, Maier-Wohlfart S, Bouroubi A, Porte F. Schneider H, et al. Among authors: guillen navarro e. Genes (Basel). 2023 Jan 6;14(1):153. doi: 10.3390/genes14010153. Genes (Basel). 2023. PMID: 36672894 Free PMC article.
Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency.
García-Martínez VE, Galiana-Vallés X, Zomeño-Alcalá O, Rodríguez-López R, Llena C, Martínez-Romero MDC, Guillén-Navarro E. García-Martínez VE, et al. Among authors: guillen navarro e. Children (Basel). 2023 Feb 10;10(2):356. doi: 10.3390/children10020356. Children (Basel). 2023. PMID: 36832485 Free PMC article.
Androgen receptor polyQ alleles and COVID-19 severity in men: A replication study.
López-Rodríguez R, Ruiz-Hornillos J, Cortón M, Almoguera B, Minguez P, Pérez-Tomás ME, Barreda-Sánchez M, Mancebo E, Ondo L, Martínez-Ramas A, Fernández-Caballero L, Taracido-Fernández JC, Herrero-González A, Mahillo I; STOP_Coronavirus Study Group; Paz-Artal E, Guillén-Navarro E, Ayuso C. López-Rodríguez R, et al. Among authors: guillen navarro e. Andrology. 2023 Jan;11(1):24-31. doi: 10.1111/andr.13339. Epub 2022 Nov 28. Andrology. 2023. PMID: 36375449 Free PMC article.
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A, Cambra A, Santomé JL, Seidel V, Cruz J, Alonso M, Pozo J, Valenzuela I, Guillén-Navarro E, Santos-Simarro F, González-Casado I, Rodríguez A, Medrano C, López-Siguero JP, Ezquieta B. Carcavilla A, et al. Among authors: guillen navarro e. J Clin Med. 2023 Jul 29;12(15):5003. doi: 10.3390/jcm12155003. J Clin Med. 2023. PMID: 37568403 Free PMC article.
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.
Maghnie M, Semler O, Guillen-Navarro E, Selicorni A, Heath KE, Haeusler G, Hagenäs L, Merker A, Leiva-Gea A, González 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. Maghnie M, et al. Among authors: guillen navarro e. Orphanet J Rare Dis. 2023 Mar 15;18(1):56. doi: 10.1186/s13023-023-02652-2. Orphanet J Rare Dis. 2023. PMID: 36922864 Free PMC article.
143 results