Rare Diseases & Pediatric Medicine

Scientific Papers

• Allegue F, Fachal C, González-Vilas D, Zulaica A. Rhinophyma-like granuloma faciale. Dermatol Ther. 2021 Mar;34(2):e14772. PMID: 33428322. DOI: 10.1111/dth.14772. http://www.ncbi.nlm.nih.gov/pubmed/33428322 +Pubmed +DOI
• Allegue F, Fachal C, Iglesias B, Zulaica A. Facial Discoid Dermatosis: A New Variant of Pityriasis Rubra Pilaris? Actas Dermosifiliogr. 2021 May;(E-PUB) PMID: 33992621. DOI: 10.1016/j.ad.2021.01.006. http://www.ncbi.nlm.nih.gov/pubmed/33992621 +Pubmed +DOI
• Álvarez-Satta M, Lago-Docampo M, Bea-Mascato B, Solarat C, Castro-Sánchez S, Christensen ST, Valverde D. ALMS1 Regulates TGF-? Signaling and Morphology of Primary Cilia. Front cell Dev Biol. 2021;9:623829. PMID: 33598462. DOI: 10.3389/fcell.2021.623829. http://www.ncbi.nlm.nih.gov/pubmed/33598462 +Pubmed +DOI
• Amado Puentes A, Pereiro Fernández S. [Online with your pediatrician. Authors reply]. An Pediatr. 2021 Mar;94(3):199–200. PMID: 32891581. DOI: 10.1016/j.anpedi.2020.07.019. http://www.ncbi.nlm.nih.gov/pubmed/32891581 +Pubmed +DOI
• Bea-Mascato B, Solarat C, Perea-Romero I, Jaijo T, Blanco-Kelly F, Millán JM, Ayuso C, Valverde D. Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients. Genes (Basel). 2021;12(2):282. PMID: 33669459. DOI: 10.3390/genes12020282. http://www.ncbi.nlm.nih.gov/pubmed/33669459 +Pubmed +DOI
• Concheiro-Guisan A, Fiel-Ozores A, Novoa-Carballal R, González-Duran ML, Portugués de la Red M, Martínez-Reglero C, Fernández-Pinilla I, González-Guijarro I. Subtle olfactory dysfunction after SARS-CoV-2 virus infection in children. Int J Pediatr Otorhinolaryngol. 2021 Jan;140:110539. PMID: 33307419. DOI: 10.1016/j.ijporl.2020.110539. http://www.ncbi.nlm.nih.gov/pubmed/33307419 +Pubmed +DOI
• Fiel-Ozores A, González-Durán ML, Novoa-Carballal R, Portugués-de la Red MDM, Fernández-Pinilla I, Cabrera-Alvargonzález JJ, Martínez-Reglero C, Rey-Cao S, Concheiro-Guisán A. [Differential clinic in children infected by SARS-CoV-2, traceability of contacts and cost-effectiveness of diagnostic tests: Cross-sectional observational study]. An Pediatr. 2021 May;94(5):318–26. PMID: 33485824. DOI: 10.1016/j.anpedi.2020.12.001. http://www.ncbi.nlm.nih.gov/pubmed/33485824 +Pubmed +DOI
• Gayoso-Rey M, Díaz-Trastoy O, Romero-Ventosa EY, García-Beloso N, González-Freire L, Lorenzo-Lorenzo K, Mantiñán-Gil B, Palmeiro-Carballeira R, Bravo-Amaro M, López-Gil-Otero MDM, Martínez-Reglero C, Crespo-Diz C, Fernández-Catalina P, Piñeiro Corrales G. Effectiveness, Safety, and Adherence to Treatment of Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitors in Real Practice. Clin Ther. 2021;43(4):e111–21. PMID: 33712271. DOI: 10.1016/j.clinthera.2021.02.002. http://www.ncbi.nlm.nih.gov/pubmed/33712271 +Pubmed +DOI
• Hodcroft EB, Zuber M, Nadeau S, Vaughan TG, Crawford KHD, Althaus CL, Reichmuth ML, Bowen JE, Walls AC, Corti D, Bloom JD, Veesler D, Mateo D, Hernando A, Comas I, González-Candelas F, SeqCOVID-SPAIN consortium (David Posada; Diana Valverde), Stadler T, Neher RA. Spread of a SARS-CoV-2 variant through Europe in the summer of 2020. Nature. 2021;595(7869):707–12. PMID: 34098568. DOI: 10.1038/s41586-021-03677-y. http://www.ncbi.nlm.nih.gov/pubmed/34098568 +Pubmed +DOI
• Labandeira CM, Fraga-Bau A, Arias Ron D, Muñoz A, Alonso-Losada G, Koukoulis A, Romero-Lopez J, Rodriguez-Perez AI. Diabetes, insulin and new therapeutic strategies for Parkinson´s disease: Focus on glucagon-like peptide-1 receptor agonists. Front Neuroendocrinol. 2021 Jul;62:100914. PMID: 33845041. DOI: 10.1016/j.yfrne.2021.100914. http://www.ncbi.nlm.nih.gov/pubmed/33845041 +Pubmed +DOI
• Larrañaga-Moreira JM, Blanco-Arias P, San Millán-Tejado B, Barge-Caballero G, Crespo-Leiro MG, Barriales-Villa R. Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene. Rev Esp Cardiol (Engl Ed). 2021 Jun;(E-PUB) PMID: 34120883. DOI: 10.1016/j.rec.2021.04.015. http://www.ncbi.nlm.nih.gov/pubmed/34120883 +Pubmed +DOI
• Martínez-López-de-Castro N, Samartín-Ucha M, Paradela-Carreiro A, Pérez-Landeiro A, Inaraja-Bobo MT, Álvarez-Payero M, Castro-Núñez I, García-Beloso N, Robles-Torres D, López-López A, González-Costas S, Leboreiro-Enríquez B, Otero-Millán L, Yaiza Romero-Ventosa E, Casanova-Martínez C, Lorenzo-Lorenzo K, Regueira-Arcay AM, Vázquez-López C, Martínez-Reglero C, Piñeiro-Corrales G. Real-world prevalence and consequences of potential drug-drug interactions in the first-wave COVID-19 treatments. J Clin Pharm Ther. 2021 Jun;46(3):724–30. PMID: 33368439. DOI: 10.1111/jcpt.13337. http://www.ncbi.nlm.nih.gov/pubmed/33368439 +Pubmed +DOI
• Núñez-Fernández M, Ramos-Hernández C, García-Río F, Torres-Durán M, Nodar-Germiñas A, Tilve-Gómez A, Rodríguez-Fernández P, Valverde-Pérez D, Ruano-Raviña A, Fernández-Villar A. Alterations in Respiratory Function Test Three Months after Hospitalisation for COVID-19 Pneumonia: Value of Determining Nitric Oxide Diffusion. J Clin Med. 2021 May;10(10):2119. PMID: 34068867. DOI: 10.3390/jcm10102119. http://www.ncbi.nlm.nih.gov/pubmed/34068867 +Pubmed +DOI
• Ortiz-Rey J-A, Fachal C, Juaneda-Magdalena L, Muñoz-Martín M, Repáraz-Andrade A, Teijeira S, Lamas-Barreiro J-M, Almuster-Domínguez S, San Miguel-Fraile P, Gómez-de María C. Clear cell clusters in the kidney: a rare finding that should not be misdiagnosed as renal cell carcinoma. Virchows Arch. 2021 Jul;479(1):57–67. PMID: 33447899. DOI: 10.1007/s00428-021-03018-4. http://www.ncbi.nlm.nih.gov/pubmed/33447899 +Pubmed +DOI
• Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ, ESRETNET Study Group (Diana Valverde), ERDC Study Group, Associated Clinical Study Group, Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Sci Rep. 2021;11(1):1526. PMID: 33452396. DOI: 10.1038/s41598-021-81093-y. http://www.ncbi.nlm.nih.gov/pubmed/33452396 +Pubmed +DOI
• Pérez-Tarazona S, Rueda Esteban S, García-García ML, Arroyas Sanchez M, de Mir Messa I, Acevedo Valarezo T, Mesa Medina O, Callejón Callejón A, Canino Calderín EM, Albi Rodriguez S, Ayats Vidal R, Salcedo Posadas A, Costa Colomer J, Domingo Miró X, Berrocal Castañeda M, Villares Porto-Dominguez A, Working Group of Perinatal Respiratory Diseases of the Spanish Society of Pediatric Pulmonology. Respiratory outcomes of “new” bronchopulmonary dysplasia in adolescents: A multicenter study. Pediatr Pulmonol. 2021 Dec;56(5):1205–14. PMID: 33314679. DOI: 10.1002/ppul.25226. http://www.ncbi.nlm.nih.gov/pubmed/33314679 +Pubmed +DOI
• Santos García D, de Deus Fonticoba T, Cores C, Castro ES, Hernández Vara J, Jesús S, Mir P, Cosgaya M, Martí MJ, Pastor P, Cabo I, Seijo M, Legarda I, Vives B, Caballol N, Rúiz Martínez J, Croitoru I, Cubo E, Miranda J, Alonso Losada MG, Labandeira C, López Ariztegui N, Morales-Casado M, González Aramburu I, Infante J, Escalante S, Bernardo N, Blázquez Estrada M, Menéndez González M, Caldentey JG, Borrué C, Vela L, Catalán MJ, Gómez Mayordomo V, Kurtis M, Prieto C, Ordás C, Nogueira V, López Manzanares L, Ávila Rivera MA, Puente V, García Moreno JM, Solano Vila B, Álvarez Sauco M, Carrillo Padilla F, Carlos Martínez Castrillo J, Sánchez Alonso P, Gastón I, Kulisevsky J, Valero C, de Fábregues O, González Ardura J, López Díaz LM, Martinez-Martin P, COPPADIS Study Group. Falls Predict Acute Hospitalization in Parkinson´s Disease. J Parkinsons Dis. 2021 Apr;(E-PUB) PMID: 33843696. DOI: 10.3233/JPD-212539. http://www.ncbi.nlm.nih.gov/pubmed/33843696 +Pubmed +DOI
• Santos García D, Labandeira Guerra C, Yáñez Baña R, Cimas Hernando MI, Cabo López I, Paz Gonález JM, Alonso Losada MG, González Palmás MJ, Martínez Miró C. Safinamide Improves Non-Motor Symptoms Burden in Parkinson´s Disease: An Open-Label Prospective Study. Brain Sci. 2021 Mar;11(3):316. PMID: 33801565. DOI: 10.3390/brainsci11030316. http://www.ncbi.nlm.nih.gov/pubmed/33801565 +Pubmed +DOI
• Vaqueiro Graña M, Aneiros Castro B, García Martínez E, Tallón García M, Fernández Lorenzo JR. Segmental multicystic dysplastic kidney: Two case reports. Pediatr Int. 2021 Jul;(E-PUB) PMID: 34258821. DOI: 10.1111/ped.14593. http://www.ncbi.nlm.nih.gov/pubmed/34258821 +Pubmed +DOI

Scientific Papers

• Allegue F, Fachal C, González-Vilas D, Zulaica A. Papulosis bowenoide lineal. Actas Dermosifiliogr. 2020 Jan;111(1):76–7. PMID: 31563264. DOI: 10.1016/j.ad.2018.05.019. https://pubmed.ncbi.nlm.nih.gov/31563264/ +Pubmed +DOI
• Allegue F, González-Vilas D, Fachal C, Zulaica A. Solitary Glomus Tumor Presenting as a Telangiectatic Macule. Actas Dermosifiliogr. 2020 Jun;111(5):434–6. PMID: 32416937. DOI: 10.1016/j.ad.2018.11.010. http://www.ncbi.nlm.nih.gov/pubmed/32416937 +Pubmed +DOI
• Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi G Pietro, Dam L Ten, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D´Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke DV, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain. 2020;143(9):2696–708. PMID: 32875335. DOI: 10.1093/brain/awaa228. http://www.ncbi.nlm.nih.gov/pubmed/32875335 +Pubmed +DOI
• Amado Puentes A, Villar Rodríguez N, Pereiro Fernández S, García Alonso L. [Suitability and validation of WhatsAppTM as a method of communicating with family]. An Pediatr (Barc). 2020 May;92(5):300–2. PMID: 30981642. DOI: 10.1016/j.anpedi.2019.02.010. http://www.ncbi.nlm.nih.gov/pubmed/30981642 +Pubmed +DOI
• Arnaez J, Herranz-Rubia N, Garcia-Alix A, Grupo de Trabajo ESP-EHI, Grupo de Trabajo ESP-EHI. Unidades de Neonatología. Hospitales terciarios E (A C-G. [Holistic approach of the care of the infant with hypoxic-ischaemic encephalopathy in Spain]. An Pediatr (Barc). 2020 May;92(5):286–96. PMID: 31383601. DOI: 10.1016/j.anpedi.2019.05.013. http://www.ncbi.nlm.nih.gov/pubmed/31383601 +Pubmed +DOI
• Biferi MG, Cohen-Tannoudji M, García-Silva A, Souto-Rodríguez O, Viéitez-González I, San-Millán-Tejado B, Fernández-Carrera A, Pérez-Márquez T, Teijeira-Bautista S, Barrera S, Domínguez V, Marais T, González-Fernández Á, Barkats M, Ortolano S. Systemic Treatment of Fabry Disease Using a Novel AAV9 Vector Expressing ?-Galactosidase A. Mol Ther Methods Clin Dev. 2020 Mar;20:1–17. PMID: 33335943. DOI: 10.1016/j.omtm.2020.10.016. http://www.ncbi.nlm.nih.gov/pubmed/33335943 +Pubmed +DOI
• Castaño JAT, Hernández-Gonzalez I, Gallego N, Pérez-Olivares C, Ochoa Parra N, Arias P, Granda E, Acebo GG, Lago-Docampo M, Palomino-Doza J, López Meseguer M, Del Cerro MJ, Pah Consortium S, Valverde D, Lapunzina P, Escribano-Subías P. Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension. Genes (Basel). 2020;11(10):1158. PMID: 33007923. DOI: 10.3390/genes11101158. http://www.ncbi.nlm.nih.gov/pubmed/33007923 +Pubmed +DOI
• Costa-Posada U, Concheiro-Guisán A, Táboas-Ledo MF, González-Colmenero E, González-Durán ML, Suarez-Albo M, Duran Fernández-Feijoo C, Pumarada-Prieto M, Martínez-Reglero C, Fernández-Lorenzo JR. Accuracy of transcutaneous bilirubin on covered skin in preterm and term newborns receiving phototherapy using a JM-105 bilirubinometer. J Perinatol. 2020;40(2):226–31. PMID: 31767979. DOI: 10.1038/s41372-019-0557-9. http://www.ncbi.nlm.nih.gov/pubmed/31767979 +Pubmed +DOI
• De Chiara L, Leiro-Fernandez V, Rodríguez-Girondo M, Valverde D, Botana-Rial MI, Fernández-Villar A. Comparison of Bisulfite Pyrosequencing and Methylation-Specific qPCR for Methylation Assessment. Int J Mol Sci. 2020 Dec;21(23):1–13. PMID: 33287451. DOI: 10.3390/ijms21239242. http://www.ncbi.nlm.nih.gov/pubmed/33287451 +Pubmed +DOI
• Di Mascio D, Sen C, Saccone G, Galindo A, Grünebaum A, Yoshimatsu J, Stanojevic M, Kurjak A, Chervenak F, Rodríguez Suárez MJ, Gambacorti-Passerini ZM, Baz M de LAA, (…), Gonzalez-Duran ML, Guisan AC, et al. Risk factors associated with adverse fetal outcomes in pregnancies affected by Coronavirus disease 2019 (COVID-19): a secondary analysis of the WAPM study on COVID-19. J Perinat Med. 2020;48(9):950–8. PMID: 32975205. DOI: 10.1515/jpm-2020-0355. http://www.ncbi.nlm.nih.gov/pubmed/32975205 +Pubmed +DOI
• García Alonso L, Fiel-Costas A, Rey-Cordo CL, Fernández-Eire P. Hiperplasia suprarrenal congénita debida a déficit de 21-hidroxilasa?: a propósito de una nueva mutación en el gen CYP21A2 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency?: a novel mutation of the CYP21A2 genes. Rev Española Endocrinol Pediátrica. 2020 Jul;11(1):40–3. DOI: 10.3266/RevEspEndocrinolPediatr.pre2020.May.573. http://doi.org/10.3266/RevEspEndocrinolPediatr.pre2020.May.573 +DOI
• García-Martínez MÁ, Montejo González JC, García-de-Lorenzo Y Mateos A, Teijeira S. Muscle weakness: Understanding the principles of myopathy and neuropathy in the critically ill patient and the management options. Clin Nutr. 2020;39(5):1331–44. PMID: 31255348. DOI: 10.1016/j.clnu.2019.05.027. http://www.ncbi.nlm.nih.gov/pubmed/31255348 +Pubmed +DOI
• Gayoso-Rey M, Romero-Ventosa EY, Leboreiro-Enríquez B, Álvarez-Sánchez MJ, Gonzalo LB, García-Comesaña J, Piñeiro-Corrales G. Standardization Consensus of a Hospital Drug Database: An Efficient Tool. Ther Innov Regul Sci. 2020 Jan;54(1):85–92. PMID: 32008248. DOI: 10.1007/s43441-019-00032-2. http://www.ncbi.nlm.nih.gov/pubmed/32008248 +Pubmed +DOI
• González-Colmenero E, Concheiro-Guisán A, Lorenzo-Martínez M, Concheiro M, Lendoiro E, De-Castro-Ríos A, Cañizo-Vázquez D, Martínez-Reglero C, Fernández-Lorenzo JR. Drug testing in biological samples vs. maternal surveys for the detection of substance use during whole pregnancy. J Addict Dis. 2020 Oct;39(2):175–82. PMID: 33043834. DOI: 10.1080/10550887.2020.1831137. http://www.ncbi.nlm.nih.gov/pubmed/33043834 +Pubmed +DOI
• Gutiérrez Junquera C, Fernández Fernández S, Domínguez-Ortega G, Vila Miravet V, García Puig R, García Romero R, Fernández de Valderrama A, Andradas Rivas R, Grupo de Trabajo de Trastornos Gastrointestinales Eosinofílicos de la Sociedad Española de Gastroenterología H y NP-S (Beatriz F-C. [Recommendations for the diagnosis and practical management of paediatric eosinophilic oesophagitis]. An Pediatr (Barc). 2020 Jun;92(6):376.e1-376.e10. PMID: 32471747. DOI: 10.1016/j.anpedi.2020.04.007. http://www.ncbi.nlm.nih.gov/pubmed/32471747 +Pubmed +DOI
• Hernandez-Gonzalez I, Tenorio J, Palomino-Doza J, Martinez Meñaca A, Morales Ruiz R, Lago-Docampo M, Valverde Gomez M, Gomez Roman J, Enguita Valls AB, Perez-Olivares C, Valverde D, Gil Carbonell J, Garrido-Lestache Rodríguez-Monte E, Del Cerro MJ, Lapunzina P, Escribano-Subias P. Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4. PLoS One. 2020;15(4):e0232216. PMID: 32348326. DOI: 10.1371/journal.pone.0232216. http://www.ncbi.nlm.nih.gov/pubmed/32348326 +Pubmed +DOI
• Jiménez Treviño S, Pujol Muncunill G, Martín-Masot R, Rodríguez Martínez A, Segarra Cantón O, Peña Quintana L, Armas Ramos H, Eizaguirre Arocena FJ, Barrio Torres J, García Burriel JI, Ortigosa Castillo L, Donat Aliaga E, Crujeiras Martínez V, Barros García P, Botija Arcos G, Bartolomé Porro JM, Juste Ruiz M, Ochoa Sangrador C, García Casales Z, Galicia Poblet G, Oliver Goicolea P, Lorenzo Garrido H, García Romero R, La Orden Izquierdo E, Pérez Solis D, Navas-López VM, Díaz Martin JJ, Martín de Carpi J. Spanish Pediatric Inflammatory Bowel Disease Diagnostic Delay Registry: SPIDER Study From Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica. Front Pediatr. 2020;8(October):584278. PMID: 33178654. DOI: 10.3389/fped.2020.584278. http://www.ncbi.nlm.nih.gov/pubmed/33178654 +Pubmed +DOI
• Lago-Docampo M, Tenorio J, Hernández-González I, Pérez-Olivares C, Escribano-Subías P, Pousada G, Baloira A, Arenas M, Lapunzina P, Valverde D. Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients. Sci Rep. 2020;10(1):15135. PMID: 32934261. DOI: 10.1038/s41598-020-72089-1. http://www.ncbi.nlm.nih.gov/pubmed/32934261 +Pubmed +DOI
• López-Rabuñal Á, Lendoiro E, González-Colmenero E, Concheiro-Guisán A, Concheiro-Guisán M, Peñas-Silva P, Macias-Cortiña M, López-Rivadulla M, Cruz A, De-Castro-Ríos A. Assessment of Tobacco Exposure During Pregnancy by Meconium Analysis and Maternal Interview. J Anal Toxicol. 2020 Dec;44(8):797–802. PMID: 32227079. DOI: 10.1093/jat/bkaa027. http://www.ncbi.nlm.nih.gov/pubmed/32227079 +Pubmed +DOI
• Luján M, Peñuelas Ó, Cinesi Gómez C, García-Salido A, Moreno Hernando J, Romero Berrocal A, Gutiérrez Ibarluzea I, Masa Jiménez JF, Mas A, Carratalá Perales JM, Gaboli M, Concheiro Guisán A, García Fernández J, Escámez J, Parrilla Parrilla J, Farrero Muñoz E, González M, Heili-Frades SB, Sánchez Quiroga MÁ, Rialp Cervera G, Hernández G, Sánchez Torres A, Uña R, Ortolà CF, Ferrer Monreal M, Egea Santaolalla C. Summary of recommendations and key points of the consensus of Spanish scientific societies (SEPAR, SEMICYUC, SEMES; SECIP, SENEO, SEDAR, SENP) on the use of non-invasive ventilation and high-flow oxygen therapy with nasal cannulas in adult, pediatric, and. Med intensiva. 2020 Dec;19(5):189–96. PMID: 33309463. DOI: 10.1016/j.medin.2020.08.016. http://www.ncbi.nlm.nih.gov/pubmed/3330946 +Pubmed +DOI
• Martín-Nalda A, Fortuny C, Rey L, Bunney TD, Alsina L, Esteve-Solé A, Bull D, Anton MC, Basagaña M, Casals F, Deyá A, García-Prat M, Gimeno R, Juan M, Martinez-Banaclocha H, Martinez-Garcia JJ, Mensa-Vilaró A, Rabionet R, Martin-Begue N, Rudilla F, Yagüe J, Estivill X, García-Patos V, Pujol RM, Soler-Palacín P, Katan M, Pelegrín P, Colobran R, Vicente A, Arostegui JI. Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations. J Clin Immunol. Journal of Clinical Immunology; 2020;40(7):987–1000. PMID: 32671674. DOI: 10.1007/s10875-020-00794-7. http://www.ncbi.nlm.nih.gov/pubmed/32671674 +Pubmed +DOI
• Martínez-López-de-Castro N, Álvarez-Payero M, Samartín-Ucha M, Martín-Vila A, Piñeiro-Corrales G, Rodríguez-Rodríguez M, Maceiras-Pan FJ, Melero-González RB, Pego-Reigosa JM. Biological therapy safety in chronic inflammatory arthropathy patients. Eur J Rheumatol. 2020 May;7(2):53–9. PMID: 32644925. DOI: 10.5152/eurjrheum.2019.19123. https://pubmed.ncbi.nlm.nih.gov/32644925/ +Pubmed +DOI
• Martínez-López-de-Castro N, Álvarez-Payero M, Samartín-Ucha M, Martínez-Reglero C, Martín-Vila A, Rodríguez-Rodríguez M, Piñeiro-Corrales G, Maceiras-Pan JF, Melero-González RB, Pego-Reigosa JM. Direct costs in patients with chronic inflammatory arthropathies on biological therapy: a real-world data study. Clin Exp Rheumatol. 2020 Sep;39(4):736–45. PMID: 32896255. https://pubmed.ncbi.nlm.nih.gov/32896255/ +Pubmed
• McEachin ZT, Gendron TF, Raj N, García-Murias M, Banerjee A, Purcell RH, Ward PJ, Todd TW, Merritt-Garza ME, Jansen-West K, Hales CM, García-Sobrino T, Quintáns B, Holler CJ, Taylor G, San Millán B, Teijeira S, Yamashita T, Ohkubo R, Boulis NM, Xu C, Wen Z, Streichenberger N, Neuro–CEB Neuropathology Network, Fogel BL, Kukar T, Abe K, Dickson DW, Arias M, Glass JD, Jiang J, Tansey MG, Sobrido M-J, Petrucelli L, Rossoll W, Bassell GJ. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36. Neuron. 2020 Jul;107(2):292-305.e6. PMID: 32375063. DOI: 10.1016/j.neuron.2020.04.011. http://www.ncbi.nlm.nih.gov/pubmed/32375063 +Pubmed +DOI
• Moriczi M, Pujol-Muncunill G, Martín-Masot R, Jiménez Treviño S, Segarra Cantón O, Ochoa Sangrador C, Peña Quintana L, González Santana D, Rodríguez Martínez A, Rosell Camps A, Armas H, Barrio J, González de Caldas R, Rodríguez Salas M, Balmaseda Serrano E, Donat Aliaga E, Bodas Pinedo A, Vaquero Sosa E, Vecino López R, Solar Boga A, Moreno Álvarez A, Sánchez Sánchez C, Tolín Hernani M, Gutiérrez Junquera C, Martinón Torres N, Leis Trabazo MR, Eizaguirre FJ, García Peris M, Medina Benítez E, Fernández Caamaño B, Vegas Álvarez AM, Crespo Valderrábano L, Alonso Vicente C, Rubio Santiago J, Galera-Martínez R, García-Romero R, Ros Arnal I, Fernández Cebrián S, Lorenzo Garrido H, Viada Bris JF, Velasco Rodríguez-Belvis M, Bartolomé Porro JM, Blanco Rodríguez M, Barros García P, Botija G, Chicano Marín FJ, La Orden Izquierdo E, Crehuá-Gaudiza E, Navas-López VM, Martín-de-Carpi J. Predictors of Response to Exclusive Enteral Nutrition in Newly Diagnosed Crohn´s Disease in Children: PRESENCE Study from SEGHNP. Nutrie +Pubmed +DOI
• Pinós T, Andreu AL, Bruno C, Hadjigeorgiou GM, Haller RG, Laforêt P, Lucía A, Martín MA, Martinuzzi A, Navarro C, Oflazer P, Pouget J, Quinlivan R, Sacconi S, Scalco RS, Toscano A, Vissing J, Vorgerd M, Wakelin A, Martí R, EUROMAC Consortium (Beatriz San-Millán; Irene Vieitez). Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry). Orphanet J Rare Dis. Orphanet Journal of Rare Diseases; 2020;15(1):187. PMID: 33054807. DOI: 10.1186/s13023-020-01455-z. http://www.ncbi.nlm.nih.gov/pubmed/33054807 +Pubmed +DOI
• Prada-Arias M, Gómez-Veiras J, Salgado-Barreira Á, Vázquez JL, Montero-Sánchez M, Fernández-Lorenzo JR. Value of Fibrinogen to Discriminate Appendicitis from Nonspecific Abdominal Pain in Preschool Children. Eur J Pediatr Surg. 2020 Aug;30(4):357–63. PMID: 31189186. DOI: 10.1055/s-0039-1692166. http://www.ncbi.nlm.nih.gov/pubmed/31189186 +Pubmed +DOI
• Prada-Arias M, Gómez-Veiras J, Vázquez JL, Salgado-Barreira Á, Montero-Sánchez M, Fernández-Lorenzo JR. Appendicitis or non-specific abdominal pain in pre-school children: When to request abdominal ultrasound? J Paediatr Child Health. 2020 Mar;56(3):367–71. PMID: 31482635. DOI: 10.1111/jpc.14617. http://www.ncbi.nlm.nih.gov/pubmed/31482635 +Pubmed +DOI
• Rodríguez-López C, García-Cárdaba LM, Blázquez A, Serrano-Lorenzo P, Gutiérrez-Gutiérrez G, San Millán-Tejado B, Muelas N, Hernández-Laín A, Vílchez JJ, Gutiérrez-Rivas E, Arenas J, Martín MA, Domínguez-González C. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia. J Med Genet. 2020;57(9):643–6. PMID: 32161153. DOI: 10.1136/jmedgenet-2019-106649. http://www.ncbi.nlm.nih.gov/pubmed/32161153 +Pubmed +DOI
• Samartín-Ucha M, Pego-Reigosa JM, Álvarez-Payero M, Martin-Vila A, Pineiro-Corrales G, Rodriguez-Rodriguez M, Melero-Gonzalez RB, Maceiras-Pan F, Martinez-Reglero C, Mrtinez-Lopez de Castro N. Medication persistence on biological therapies prescribed for the treatment of chronic inflammatory arthropathies: a real-world data study. Eur J Hosp Pharm Sci Pract. 2020 May;(E-PUB) PMID: 32404382. DOI: 10.1136/ejhpharm-2019-002133. http://www.ncbi.nlm.nih.gov/pubmed/32404382 +Pubmed +DOI
• Scalco RS, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, Toscano A, Musumeci O, Voermans NC, Kouwenberg C V, Laforêt P, San-Millán B, Vieitez I, Siciliano G, Kühnle E, Trost R, Sacconi S, Stemmerik MG, Durmus H, Kierdaszuk B, Wakelin A, Andreu AL, Pinós T, Marti R, Quinlivan R, Vissing J, EUROMAC Consortium. Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC). Orphanet J Rare Dis. 2020;15(1):330. PMID: 33234167. DOI: 10.1186/s13023-020-01562-x. http://www.ncbi.nlm.nih.gov/pubmed/33234167 +Pubmed +DOI
• Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T. Consensus clinical management guidelines for Alström syndrome. Orphanet J Rare Dis. 2020;15(1):253. PMID: 32958032. DOI: 10.1186/s13023-020-01468-8. http://www.ncbi.nlm.nih.gov/pubmed/32958032 +Pubmed +DOI
• Todd TW, McEachin ZT, Chew J, Burch AR, Jansen-West K, Tong J, Yue M, Song Y, Castanedes-Casey M, Kurti A, Dunmore JH, Fryer JD, Zhang Y-J, San Millan B, Teijeira Bautista S, Arias M, Dickson D, Gendron TF, Sobrido M-J, Disney MD, Bassell GJ, Rossoll W, Petrucelli L. Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo. Cell Rep. 2020 May;31(5):107616. PMID: 32375043. DOI: 10.1016/j.celrep.2020.107616. http://www.ncbi.nlm.nih.gov/pubmed/32375043 +Pubmed +DOI
• Vaqueiro Graña M, Aneiros Castro B, Cantero Rey R, Fernández Lorenzo JR. [Post-contusion tumours: Is it necessary to drain?]. An Pediatr (Barc). 2020 Sep;93(3):213–4. PMID: 31864847. DOI: 10.1016/j.anpedi.2019.10.012. http://www.ncbi.nlm.nih.gov/pubmed/31864847 +Pubmed +DOI

Book Chapters

• Cerecedo Fernández M, Fernández Fraga F, Fernández Santamarina I, Fontenla García J, Fuertes Moure ÁS, García Hernández I, Giráldez García MA, Herrero Hermida FJ, Hurtado Taboada RM, Luaces González J, Martínez Soto MI, Monteagudo Romero J, Pérez Pacín R, Pía Castiñeira PA, Rey García S, Vázquez Mourelle R. Recomendacións para a práctica do exercicio físico en pacientes cardiópatas en idade escolar. Santiago de Compostela: Consellería de Sanidade, Servizo Galego de Saúde, Dirección Xeral de Asistencia Sanitaria; 2020. DL: C 687-2020. http://hdl.handle.net/20.500.11940/13724 Link
• González Cabaleiro I, Barreiro Carballo L, Concheiro-Guisán A. Caso enigmático “Mielitis transversa” Programa de Educación Continua Pediátrica: situaciones y enigmas clínicos. 2020.

Clinical Practice Guidelines

• Pico MLC, Concheiro-Guisán A, Avila Alvarez A, Pérez Muñuzuri A, editors. Guía de Atención al Recién Nacido Prematuro. Madrid: Ergon; 2020. DL: M-14548-2020. ISBN: 978-84-17844-76-9. https://ergon.es/producto/guia_atencion_recien_nacido_prematuro/ +Pubmed

Scientific Papers

• Amado-Puentes A, Reparaz-Andrade A, Del Campo-García A, Blanco-Barca MÓ, Salgado-Barreira Á, Del Campo-Pérez V, Fernández-Lorenzo JR. Neurodevelopmental Disorders and Array-Based Comparative Genomic Hybridization: Sensitivity and Specificity using a Criteria Checklist for Genetic Test Performance. Neuropediatrics. 2019 Jun;50(3):164–9. PMID: 30939599. DOI: 10.1055/s-0039-1685216. http://www.ncbi.nlm.nih.gov/pubmed/30939599 +Pubmed +DOI
• Arnaez J, Herranz-Rubia N, Garcia-Alix A, ESP-EHI Group. Perinatal hypoxic-ischaemic encephalopathy: a national survey of end-of-life decisions and palliative care. BMJ Support Palliat Care. 2019 Sep;(E-PUB) PMID: 31527153. DOI: 10.1136/bmjspcare-2019-001881. http://www.ncbi.nlm.nih.gov/pubmed/31527153 +Pubmed +DOI
• Berlana D, Almendral MA, Abad MR, Fernández A, Torralba A, Cervera-Peris M, Piñeiro G, Romero-Jiménez R, Vázquez A, Ramírez E, Yébenes M, Muñoz Á. Cost, Time, and Error Assessment During Preparation of Parenteral Nutrition: Multichamber Bags Versus Hospital-Compounded Bags. JPEN J Parenter Enteral Nutr. 2019 Aug;43(4):557–65. PMID: 30156305. DOI: 10.1002/jpen.1436. http://www.ncbi.nlm.nih.gov/pubmed/30156305 +Pubmed +DOI
• Carrasco Salas P, Gómez González C, Prior de Castro C, Cuesta Peredo A, Santamaría González M, Granell Escobar R, Alcaine MJ, Torreira Banzas C, Reparaz Andrade A, Ezquieta Zubicaray B. Estudios genéticos en diagnóstico prenatal. Recomendación (2018). Rev del Lab Clínico. 2019 Jan;12(1):27–37. DOI: 10.1016/j.labcli.2018.10.001. https://doi.org/10.1016/j.labcli.2018.10.001 +DOI
• Castro-Sánchez S, Suarez-Bregua P, Novas R, Álvarez-Satta M, Badano JL, Rotllant J, Valverde D. Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model. Sci Rep. 2019;9(1):12936. PMID: 31506453. DOI: 10.1038/s41598-019-49217-7. http://www.ncbi.nlm.nih.gov/pubmed/31506453 +Pubmed +DOI
• Concheiro-Guisan A, Alonso-Clemente S, Suarez-Albo M, Duran-Fernandez Feijoo C, Fiel-Ozores A, Fernandez-Lorenzo JR. The Practicality of Feeding Defatted Human Milk in the Treatment of Congenital Chylothorax. Breastfeed Med. 2019;14(9):648–53. PMID: 31403320. DOI: 10.1089/bfm.2019.0100. http://www.ncbi.nlm.nih.gov/pubmed/31403320 +Pubmed +DOI
• De Castro NML, Álvarez-Payero M, Samartín-Ucha M, Martín-Vila A, Piñeiro-Corrales G, Pego Reigosa JM, Rodríguez-Rodríguez M, Melero-González RB, Maceiras-Pan FJ. Adherence to biological therapies in patients with chronic inflammatory arthropathies. Farm Hosp. 2019;43(4):134–9. PMID: 31276446. DOI: 10.7399/fh.11183. https://pubmed.ncbi.nlm.nih.gov/31276446/ +Pubmed +DOI
• Espín Jaime B, Díaz Martín JJ, Blesa Baviera LC, Claver Monzón Á, Hernández Hernández A, García Burriel JI, Mérida MJG, Pinto Fernández C, Coronel Rodríguez C, Román Riechmann E, Ribes Koninckx C. [Non-IgE-mediated cow´s milk allergy: Consensus document of the Spanish Society of Paediatric Gastroenterology, Hepatology, and Nutrition (SEGHNP), the Spanish Association of Paediatric Primary Care (AEPAP), the Spanish Society of Extra-hospital Paediatri. An Pediatr (Barc). 2019 Mar;90(3):193.e1-193.e11. PMID: 30665859. DOI: 10.1016/j.anpedi.2018.11.007. http://www.ncbi.nlm.nih.gov/pubmed/30665859 +Pubmed +DOI
• Gallastegui C, Fernández-Vega H, Piñeiro G, Rey-Gómez-Serranillos I, Olivares JM, De Las Heras-Liñero E. Evaluación de la adherencia al tratamiento con antipsicóticos inyectables de liberación prolongada dentro de un programa de seguimiento farmacoterapéutico. Farm Hosp. 2019;43(6):177–81. PMID: 31705640. DOI: 10.7399/fh.11188. http://www.aulamedica.es/fh/pdf/11188.pdf +Pubmed +DOI
• García-Mayor R V, Álvarez-Vázquez P, Fluiters E, Valverde D, Andrade A. Long-term remission following antithyroid drug withdrawal in patients with Graves´ hyperthyroidism: parameters with prognostic value. Endocrine. 2019 Oct;63(2):316–22. PMID: 30334140. DOI: 10.1007/s12020-018-1785-z. http://www.ncbi.nlm.nih.gov/pubmed/30334140 +Pubmed +DOI
• García-Oro S, Valverde D. Does the meiotic spindle really predicts embryo implantation and live birth rates? An update. Zygote. 2019 Feb;27(1):1–4. PMID: 30516453. DOI: 10.1017/S096719941800059X. http://www.ncbi.nlm.nih.gov/pubmed/30516453 +Pubmed +DOI
• Hanna J, Lendoiro E, de Castro A, Gónzalez-Colmenero E, Concheiro-Guisan A, Peñas-Silva P, Macias-Cortiña M, Cruz-Landeira A, López-Rivadulla M, Concheiro-Guisan M. Detection of in utero ethanol exposure via ethyl glucuronide and ethyl sulfate analysis in umbilical cord and placenta. Forensic Toxicol. 2019 Jan;37(1):90–103. DOI: 10.1007/s11419-018-0439-4. http://link.springer.com/10.1007/s11419-018-0439-4 +DOI
• Leiro V, De Chiara L, Rodríguez-Girondo M, Botana-Rial M, Valverde D, Núñez-Delgado M, Fernández-Villar A. Methylation Assessment for the Prediction of Malignancy in Mediastinal Adenopathies Obtained by Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration in Patients with Lung Cancer. Cancers (Basel). 2019 Sep;11(10):1–13. PMID: 31547177. DOI: 10.3390/cancers11101408. http://www.ncbi.nlm.nih.gov/pubmed/31547177 +Pubmed +DOI
• López V, Castro ML De, Ucha S, Meléndez F. Evaluación de la satisfacción global de los pacientes con nutrición enteral domiciliaria en la consulta de farmacia hospitalaria?: estudio. Rev Nutr Clin y Diet Hosp. 2019;39(3):146–53. DOI: 10.12873/393vazquez. https://runa.sergas.es/xmlui/handle/20.500.11940/12681 +DOI
• López-Gil Otero MM, Romero-Ventosa EY, Feijoo-Meléndez D, Casanova-Martínez C, Otero-Millán L, Piñeiro-Corrales G. [Experience with nebulised colistin in patients with non-cystic fibrosis bronchiectasis colonised with Pseudomonas aeruginosa]. Rev Esp Quimioter. 2019 Jun;32(3):217–23. PMID: 30924621. http://www.ncbi.nlm.nih.gov/pubmed/30924621 +Pubmed
• López-Suárez O, Concheiro-Guisán A, Sánchez-Pintos P, Cocho JA, Fernández Lorenzo JR, Couce ML. Acylcarnitine profile in neonatal hypoxic-ischemic encephalopathy: The value of butyrylcarnitine as a prognostic marker. Medicine (Baltimore). 2019 Apr;98(15):e15221. PMID: 30985723. DOI: 10.1097/MD.0000000000015221. http://www.ncbi.nlm.nih.gov/pubmed/30985723 +Pubmed +DOI
• Maiwald CA, Annink K V, Rüdiger M, Benders MJNL, van Bel F, Allegaert K, Naulaers G, Bassler D, Klebermaß-Schrehof K, Vento M, Guimarães H, Stiris T, Cattarossi L, Metsäranta M, Vanhatalo S, Mazela J, Metsvaht T, Jacobs Y, Franz AR, ALBINO Study Group (J Ramón Fernández-Lorenzo). Effect of allopurinol in addition to hypothermia treatment in neonates for hypoxic-ischemic brain injury on neurocognitive outcome (ALBINO): study protocol of a blinded randomized placebo-controlled parallel group multicenter trial for superiority (phase. BMC Pediatr. 2019;19(1):210. PMID: 31248390. DOI: 10.1186/s12887-019-1566-8. http://www.ncbi.nlm.nih.gov/pubmed/31248390 +Pubmed +DOI
• Martínez-López De Castro N, Samartín-Ucha M, Martín-Vila A, Álvarez-Payero M, Piñeiro-Corrales G, Pego-Reigosa JM. Content analysis of Twitter in relation to biological treatments for chronic inflammatory arthropathies: an exploratory study. Eur J Hosp Pharm Sci Pract. 2019 May;26(3):124–8. PMID: 31428318. DOI: 10.1136/ejhpharm-2017-001402. http://www.ncbi.nlm.nih.gov/pubmed/31428318 +Pubmed +DOI
• Nuñez-Ramiro A, Benavente-Fernández I, Valverde E, Cordeiro M, Blanco D, Boix H, Cabañas F, Chaffanel M, Fernández-Colomer B, Fernández-Lorenzo JR, Kuligowski J, Loureiro B, Moral-Pumarega MT, Pavón A, Sánchez-Illana A, Tofé I, Hervás D, García-Robles A, Parra-Llorca A, Cernada M, Martinez-Rodilla J, Lorente-Pozo S, Llorens R, Marqués R, Vento M, on behalf of the Hypotop Study Group. Topiramate plus Cooling for Hypoxic-Ischemic Encephalopathy: A Randomized, Controlled, Multicenter, Double-Blinded Trial. Neonatology. 2019;116(1):76–84. PMID: 31091527. DOI: 10.1159/000499084. http://www.ncbi.nlm.nih.gov/pubmed/31091527 +Pubmed +DOI
• Samartín-Ucha M, Castro-Domínguez J, Fernández-Vega H, Piñeiro-Corrales G, Coordinating Group on Safety in High-Alert-Medication in Xerencia de Xestión Integrada de Vigo VS (Noemí M-L-CAP-C. Devising of a risk map on the management of high risk alert medication in a high level university hospital. Farm Hosp. 2019;43(3):110–5. PMID: 31072289. DOI: 10.7399/fh.11175. http://www.ncbi.nlm.nih.gov/pubmed/31072289 +Pubmed +DOI
• Samartín-Ucha M, Piñeiro-Corrales G, Continuity of Care Group from the EOXI Vigo. Model of teleconsultation pharmaceutical integrated in the electronic clinical history of the patient. Farm Hosp. 2019;43(1):1–5. PMID: 30624166. DOI: 10.7399/fh.10937. http://www.ncbi.nlm.nih.gov/pubmed/30624166 +Pubmed +DOI
• Shah PS, Lui K, Reichman B, Norman M, Kusuda S, Lehtonen L, Adams M, Vento M, Darlow BA, Modi N, Rusconi F, Håkansson S, San Feliciano L, Helenius KK, Bassler D, Hirano S, Lee SK, iNEO Networks and investigators – SEN1500 – Spanish Neonatal Network (María Suárez-Albo; Eva García-Colmenero). The International Network for Evaluating Outcomes (iNeo) of neonates: evolution, progress and opportunities. Transl Pediatr. 2019 Jul;8(3):170–81. PMID: 31413951. DOI: 10.21037/tp.2019.07.06. http://www.ncbi.nlm.nih.gov/pubmed/31413951 +Pubmed +DOI
• Simal I, Parente A, García-Saavedra S, Prada-Arias M, Burgos L, Ortiz R, Gómez-Veiras J, Montero M, Angulo JM. Tratamiento laparoscópico del varicocele en adolescentes. Acta Pediatr Esp. 2019;77(5–6):119–28. https://dialnet.unirioja.es/servlet/articulo?codigo=7009323 Link

Book Chapters

• Suárez-Peñaranda JM, Concheiro-Guisán A, Rodríguez-Calvo MS. Capítulo 20. Muerte súbita en el adulto y muerte súbita infantil. In: Villanueva-Cañadas E (ed.). Gisbert Calabuig Medicina legal y toxicológica. 7a. Elsevier; 2019. p. 244–62. ISBN: 978-84-9113-096-3. https://www.elsevier.com/books/gisbert-calabuig-medicina-legal-y-toxicologica/villanueva-canadas/978-84-9113-096-3 Link

Scientific Papers

• Allegue F, Fachal C, González-Vilas D, Zulaica A. Atrophying Pityriasis Versicolor. Actas dermo-sifiliograficas (English Ed. 2018 Jun;109(5):455–7. PMID: 29249261. DOI: 10.1016/j.ad.2017.08.013. http://www.ncbi.nlm.nih.gov/pubmed/29249261 +Pubmed +DOI
• Arnaez J, García-Alix A, Arca G, Valverde E, Caserío S, Moral MT, Benavente-Fernández I, Lubián-López S, Grupo de Trabajo EHI-ESP (Concheiro-Guisán Ana). [Incidence of hypoxic-ischaemic encephalopathy and use of therapeutic hypothermia in Spain]. An Pediatr (Barc). 2018 Jul;89(1):12–23. PMID: 28764944. DOI: 10.1016/j.anpedi.2017.06.008. http://www.ncbi.nlm.nih.gov/pubmed/28764944 +Pubmed +DOI
• Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, Sánchez-Durán N, Capín R, Plasencia A, Viejo-Díaz M, García-González N, Hernando I, Llorente JL, Repáraz-Andrade A, Torreira-Banzas C, Rosell J, Govea N, Gómez-Martínez JR, Núñez-Batalla F, Garrote JA, Mazón-Gutiérrez Á, Costales M, Isidoro-García M, García-Berrocal B, Ordóñez GR, Cadiñanos J. Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. BMC Med Genomics. 2018 Jul;11(1):58. PMID: 29986705. DOI: 10.1186/s12920-018-0375-5. http://www.ncbi.nlm.nih.gov/pubmed/29986705 +Pubmed +DOI
• Cardoso AL, Fernandes A, Aguilar-Pimentel JA, de Angelis MH, Guedes JR, Brito MA, Ortolano S, Pani G, Athanasopoulou S, Gonos ES, Schosserer M, Grillari J, Peterson P, Tuna BG, Dogan S, Meyer A, van Os R, Trendelenburg A-U. Towards frailty biomarkers: Candidates from genes and pathways regulated in aging and age-related diseases. Ageing Res Rev. 2018 Jul;47:214–77. PMID: 30071357. DOI: 10.1016/j.arr.2018.07.004. http://www.ncbi.nlm.nih.gov/pubmed/30071357 +Pubmed +DOI
• Fernández M, Lago L, Alonso MG, Guede A, Benavente JL, Olivares JM. Serotonin syndrome versus neuroleptic malignant syndrome: a case report. Actas españolas Psiquiatr. 2018 Mar;46(2):68–74. PMID: 29616715. http://www.ncbi.nlm.nih.gov/pubmed/29616715 +Pubmed
• Fernandez-Flores A, Bermúdez CF, Molina I, Saus C, Monteagudo C, Cassarino DC. Pigmented Deposits in the Skin. Am J Dermatopathol. 2018 May;40(5):307–28. PMID: 29683860. DOI: 10.1097/DAD.0000000000000944. http://www.ncbi.nlm.nih.gov/pubmed/29683860 +Pubmed +DOI
• García Alonso L, Pumarada Prieto M, González Colmenero E, Concheiro Guisán A, Suárez Albo M, Durán Fernández-Feijoo C, González Durán L, Fernández Lorenzo JR. Prenatal Therapy with Magnesium Sulfate and Its Correlation with Neonatal Serum Magnesium Concentration. Am J Perinatol. 2018 Jan;35(2):170–6. PMID: 28854447. DOI: 10.1055/s-0037-1606358. http://www.ncbi.nlm.nih.gov/pubmed/28854447 +Pubmed +DOI
• K?l?nç S, Yücel-Y?lmaz D, Ardagil A, Apayd?n S, Valverde D, Özgül RK, Güven A. Five novel ALMS1 gene mutations in six patients with Alström syndrome. J Pediatr Endocrinol Metab. 2018 Jun;31(6):681–7. PMID: 29715191. DOI: 10.1515/jpem-2017-0418. http://www.ncbi.nlm.nih.gov/pubmed/29715191 +Pubmed +DOI
• Martín Del Valle F, Calvo C, Martinez-Rienda I, Cilla A, Romero MP, Menasalvas AI, Reis-Iglesias L, Roda D, Pena MJ, Rabella N, Portugués de la Red MDM, Megías G, Moreno-Docón A, Otero A, Cabrerizo M, Grupo de Estudio de las infecciones por enterovirus y parechovirus en niños. [Epidemiological and clinical characteristics of infants admitted to hospital due to human parechovirus infections: A prospective study in Spain]. An Pediatr (Barc). 2018 Feb;88(2):82–8. PMID: 28365283. DOI: 10.1016/j.anpedi.2017.02.009. http://www.ncbi.nlm.nih.gov/pubmed/28365283 +Pubmed +DOI
• Martínez-López-de-Castro N, Álvarez-Payero M, Martín-Vila A, Samartín-Ucha M, Iglesias-Neiro P, Gayoso-Rey M, Feijoo-Meléndez D, Casanova-Martínez C, Fariña-Conde M, Piñeiro-Corrales G. Factors associated with patient satisfaction in an outpatient hospital pharmacy. Eur J Hosp Pharm. 2018 Jul;25(4):183–8. DOI: 10.1136/ejhpharm-2016-001192. http://ejhp.bmj.com/lookup/doi/10.1136/ejhpharm-2016-001192 +DOI
• Nuñez A, Benavente I, Blanco D, Boix H, Cabañas F, Chaffanel M, Fernández-Colomer B, Fernández-Lorenzo JR, Loureiro B, Moral MT, Pavón A, Tofé I, Valverde E, Vento M, co-investigadores del ensayo clínico. [Oxidative stress in perinatal asphyxia and hypoxic-ischaemic encephalopathy]. An Pediatr (Barc). 2018 Apr;88(4):228.e1-228.e9. PMID: 28648366. DOI: 10.1016/j.anpedi.2017.05.005. http://www.ncbi.nlm.nih.gov/pubmed/28648366 +Pubmed +DOI
• Piera Rojo G, Fachal Bermudez C, Morano Amado L. Hypochromic skin lesions in Brazilian patient. Med Clin (Barc). 2018 Sep;151(6):e35. PMID: 29276011. DOI: 10.1016/j.medcli.2017.10.040. http://www.ncbi.nlm.nih.gov/pubmed/29276011 +Pubmed +DOI
• Pousada G, Lago-Docampo M, Baloira A, Valverde D. Pulmonary arterial hypertension associated to systemic erythematosus lupus: molecular characterization of 3 cases. Med Clin (Barc). 2018 Mar;151(3):111–5. PMID: 29526310. DOI: 10.1016/j.medcli.2018.01.023. http://www.ncbi.nlm.nih.gov/pubmed/29526310 +Pubmed +DOI
• Pousada G, Lago-Docampo M, Prado S, Varela-Calviño R, Mantiñán B, Valverde D. Functional assessment of the BMPR2 gene in lymphoblastoid cell lines from Graves´ disease patients. J Cell Mol Med. 2018 Mar;22(3):1538–47. PMID: 29266775. DOI: 10.1111/jcmm.13425. http://www.ncbi.nlm.nih.gov/pubmed/29266775 +Pubmed +DOI
• Prada Arias M, Salgado Barreira A, Montero Sánchez M, Fernández Eire P, García Saavedra S, Gómez Veiras J, Fernández Lorenzo JR. [Appendicitis versus non-specific acute abdominal pain: Paediatric Appendicitis Score evaluation]. An Pediatr (Barc). 2018 Jan;88(1):32–8. PMID: 28254168. DOI: 10.1016/j.anpedi.2017.01.006. http://www.ncbi.nlm.nih.gov/pubmed/28254168 +Pubmed +DOI
• Sanchez-Navarro I, R J da Silva L, Blanco-Kelly F, Zurita O, Sanchez-Bolivar N, Villaverde C, Lopez-Molina MI, Garcia-Sandoval B, Tahsin-Swafiri S, Minguez P, Riveiro-Alvarez R, Lorda I, Sanchez-Alcudia R, Perez-Carro R, Valverde D, Liu Y, Tian L, Hakonarson H, Avila-Fernandez A, Corton M, Ayuso C. Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. Sci Rep. 2018 Mar;8(1):5285. PMID: 29588463. DOI: 10.1038/s41598-018-23520-1. http://www.ncbi.nlm.nih.gov/pubmed/29588463 +Pubmed +DOI
• Sarens IL, Casteels I, Anton J, Bader-Meunier B, Brissaud P, Chédeville G, Cimaz R, Dick AD, Espada G, Fernandez-Martin J, Guly CM, Hachulla E, Harjacek M, Khubchandani R, Mackensen F, Merino R, Modesto C, Naranjo A, Oliveira-Knupp S, Özen S, Pajot C, Ramanan A V, Russo R, Susic G, Thatayatikom A, Thomée C, Vastert S, Bertin J, Arostegui JI, Rose CD, Wouters CH. Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series. Am J Ophthalmol. 2018 Mar;187:158–66. PMID: 28887115. DOI: 10.1016/j.ajo.2017.08.017. http://www.ncbi.nlm.nih.gov/pubmed/28887115 +Pubmed +DOI
• Sarmiento Carrera N, González Colmenero E, Vázquez Castelo JL, Concheiro Guisán A, Couceiro Naveira E, Fernández Lorenzo JR. [Risk of developmental dysplasia of the hip in patients subjected to the external cephalic version]. An Pediatr (Barc). 2018 Mar;88(3):136–9. PMID: 28479005. DOI: 10.1016/j.anpedi.2017.03.017. http://www.ncbi.nlm.nih.gov/pubmed/28479005 +Pubmed +DOI
• Vicente-Alba P, Moreno-Carretero MJ, San Millan-Tejado B, Outomuro-Perez JM. [Behavioural variant of frontotemporal dementia as the presenting symptom of corticobasal degeneration]. Rev Neurol. 2018 Dec;67(11):436–40. PMID: 30484276. http://www.ncbi.nlm.nih.gov/pubmed/30484276 +Pubmed
• Vieitez I, Souto-Rodriguez O, Fernandez-Mosquera L, San Millan B, Teijeira S, Fernandez-Martin J, Martinez-Sanchez F, Aldamiz-Echevarria LJ, Lopez-Rodriguez M, Navarro C, Ortolano S. Fabry disease in the Spanish population: observational study with detection of 77 patients. Orphanet J Rare Dis. Orphanet Journal of Rare Diseases; 2018 Apr;13(1):52. PMID: 29631605. DOI: 10.1186/s13023-018-0792-8. http://www.ncbi.nlm.nih.gov/pubmed/29631605 +Pubmed +DOI

Book Chapters

• Bugarín-González R, Cal-Purriños N, Concheiro-Guisán A, Conde-Cid T, Díez-Lindín O, Esperón-Rodríguez I, Guillén-Vilanova A, Hervada-Vidal X, Lojo-Vicente V, Ponte-García M, Ramil-Fraga C, Rodríguez-Núñez A, Ruano-Raviña A, Sánchez-Radío S, Seoana J-A, Solloso-Blanco M do C, Suárez-Berea M, Valdés-Paredes A, Vila-Iglesias I. Ética, vulnerabilidade e ancianidade. Documento de recomendacións. Edición bilingüe. Xunta de Galicia – Consellería de Sanidade – Consello de Bioética de Galicia; 2018. https://dialnet.unirioja.es/servlet/libro?codigo=724476 Link

Scientific Papers

• Álvarez-Payero M, Valeiras-Muñoz C, Lion-Vázquez S, Piñeiro-Corrales G, Muñoz-García D, Midaglia L. Experience with fampridine in clinical practice: analysis of a possible marker of clinical response. Int J Neurosci. 2017 Oct;127(10):915–22. PMID: 28054826. DOI: 10.1080/00207454.2017.1279614. IF2017: 1.848; Q4. http://www.ncbi.nlm.nih.gov/pubmed/28054826 +Pubmed +DOI
• Álvarez-Satta M, Castro-Sánchez S, Pousada G, Valverde D. Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. J Cell Mol Med. 2017;21(10):2268–75. PMID: 28502102. DOI: 10.1111/jcmm.13147. http://www.ncbi.nlm.nih.gov/pubmed/28502102 +Pubmed +DOI
• Álvarez-Satta M, Castro-Sánchez S, Valverde D. Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). Front Mol Biosci. 2017 Jul;4(JUL):55. PMID: 28824921. DOI: 10.3389/fmolb.2017.00055. IF2017: N/A. http://www.ncbi.nlm.nih.gov/pubmed/28824921 +Pubmed +DOI
• Amado A, Blanco MO, Repáraz-Andrade A. Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion. Neuropediatrics. 2017 Feb;48(2):131. PMID: 28192817. DOI: 10.1055/s-0037-1598110. IF2017: 1.605; Q3. http://www.ncbi.nlm.nih.gov/pubmed/28192817 +Pubmed +DOI
• Camprubí Camprubí M, Balada Caballé R, Ortega Cano JA, Ortega de la Torre M de los A, Duran Fernández-Feijoo C, Girabent-Farrés M, Figueras-Aloy J, Krauel X, Alcántara S. Learning and memory disabilities in IUGR babies: Functional and molecular analysis in a rat model. Brain Behav. 2017 Mar;7(3):e00631. PMID: 28293472. DOI: 10.1002/brb3.631. IF2017: 2.219; Q3. http://www.ncbi.nlm.nih.gov/pubmed/28293472 +Pubmed +DOI
• Castro-Sánchez S, Álvarez-Satta M, Tohamy MA, Beltran S, Derdak S, Valverde D. Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. PLoS One. 2017;12(8):e0183081. PMID: 28800606. DOI: 10.1371/journal.pone.0183081. http://www.ncbi.nlm.nih.gov/pubmed/28800606 +Pubmed +DOI
• Colon C, Ortolano S, Melcon-Crespo C, Alvarez J V., Lopez-Suarez OE, Couce ML, Fernandez-Lorenzo JR. Newborn screening for Fabry disease in the north-west of Spain. Eur J Pediatr. European Journal of Pediatrics; 2017 Aug;176(8):1075–81. PMID: 28646478. DOI: 10.1007/s00431-017-2950-8. IF2017: 2.242; Q2. http://www.ncbi.nlm.nih.gov/pubmed/28646478 +Pubmed +DOI
• Concheiro M, Lendoiro E, de Castro A, Gónzalez-Colmenero E, Concheiro-Guisan A, Peñas-Silva P, Macias-Cortiña M, Cruz-Landeira A, López-Rivadulla M. Bioanalysis for cocaine, opiates, methadone, and amphetamines exposure detection during pregnancy. Drug Test Anal. 2017 Jun;9(6):898–904. PMID: 27595432. DOI: 10.1002/dta.2087. IF2017: 2.993; Q1. http://www.ncbi.nlm.nih.gov/pubmed/27595432 +Pubmed +DOI
• Duran Fernandez-Feijoo C, Carrasco Carrasco C, Villalmazo Francisco N, Cebrià Romero J, Fernández Lorenzo JR, Jiménez-Chillaron JC, Camprubí Camprubí M. Influence of catch up growth on spatial learning and memory in a mouse model of intrauterine growth restriction. Adams MM (ed.). PLoS One. 2017 May;12(5):e0177468. PMID: 28542302. DOI: 10.1371/journal.pone.0177468. IF2017: 2.766; Q1. http://www.ncbi.nlm.nih.gov/pubmed/28542302 +Pubmed +DOI
• Fernandez-Eire P, Vazquez Castelo JL, Herreros Villaraviz M, Fernandez Caamaño B, Gonzalez-Carreró J, Ausania F. Management of ampullary tumours in children: still a challenge. Ann R Coll Surg Engl. 2017 May;99(5):e139–41. PMID: 28462653. DOI: 10.1308/rcsann.2017.0043. IF2017: 1.470; Q3. http://www.ncbi.nlm.nih.gov/pubmed/28462653 +Pubmed +DOI
• García Alonso L, Pumarada Prieto M, González Colmenero E, Concheiro Guisán A, Suárez Albo M, Durán Fernández-Feijoo C, González Durán L, Fernández Lorenzo JR. [Prenatal treatment with magnesium sulphate: Initial clinical outcomes in pre-term infants less than 29 weeks and correlation with neonatal magnesium levels]. An Pediatr (Barc). 2017 Mar;86(3):135–41. PMID: 27282203. DOI: 10.1016/j.anpedi.2016.04.015. IF2017: 1.318; Q3. http://www.ncbi.nlm.nih.gov/pubmed/27282203 +Pubmed +DOI
• García-Oro S, Rey MI, Rodríguez M, Durán Á, Devesa R, Valverde D. Predictive value of spindle retardance in embryo implantation rate. J Assist Reprod Genet. Journal of Assisted Reproduction and Genetics; 2017 May;34(5):617–25. PMID: 28281144. DOI: 10.1007/s10815-017-0897-3. http://www.ncbi.nlm.nih.gov/pubmed/28281144 +Pubmed +DOI
• López LC, De Benito Basanta L, Bustelo MS, Corral AB, Lorenzo JRF. Enfermedad de Vogt-Koyanagi-Harada: Una causa rara de uveítis. Acta Pediatr Esp. 2017 Jul;75(7–8):e141–3. IF2017: N/A. https://www.scopus.com/inward/record.uri?eid=2-s2.0-85034649037&partnerID=40&md5=662f74a7d64b62dd8a347eacde728846 Link
• Martinón-Torres F, Wysocki J, Center KJ, Czajka H, Majda-Stanislawska E, Omeñaca F, Concheiro-Guisan A, Gimenez-Sanchez F, Szenborn L, Blázquez-Gamero D, Moreno-Galarraga L, Giardina PC, Sun G, Gruber WC, Scott DA, Gurtman A. Circulating Antibody 1 and 2 Years After Vaccination With the 13-Valent Pneumococcal Conjugate Vaccine in Preterm Compared With Term Infants. Pediatr Infect Dis J. 2017 Mar;36(3):326–32. PMID: 27902652. DOI: 10.1097/INF.0000000000001428. IF2017: 2.305; Q2. http://www.ncbi.nlm.nih.gov/pubmed/27902652 +Pubmed +DOI
• Penín M, Martín MÁ, San Millán B, García J. Learning curve of thyroid fine-needle aspiration biopsy. Endocrinol diabetes y Nutr. 2017 Dec;64(10):539–43. PMID: 29179856. DOI: 10.1016/j.endinu.2017.07.003. IF2017: 0; Q4. http://www.ncbi.nlm.nih.gov/pubmed/29179856 +Pubmed +DOI
• Pousada G, Baloira A, Valverde D. Mutational screening in genes related with porto-pulmonary hypertension: An analysis of 6 cases. Med Clin (Barc). 2017 Apr;148(7):310–3. PMID: 28245912. DOI: 10.1016/j.medcli.2017.01.020. IF2017: 1.168; Q3. http://www.ncbi.nlm.nih.gov/pubmed/28245912 +Pubmed +DOI
• Pousada G, Lupo V, Cástro-Sánchez S, Álvarez-Satta M, Sánchez-Monteagudo A, Baloira A, Espinós C, Valverde D. Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension. Sci Rep. 2017 May;7(1):1923. PMID: 28507310. DOI: 10.1038/s41598-017-02074-8. IF2017: 4.122; Q1. http://www.ncbi.nlm.nih.gov/pubmed/28507310 +Pubmed +DOI
• Prada Arias M, Vázquez JL, Salgado Barreira A, Gómez Veiras J, García Saavedra S, Fernández Eire P, Montero Sánchez M, Fernández Lorenzo J. [Appendicitis versus nonspecific acute abdominal pain: diagnostic accuracy of ultrasound]. Cir Pediatr. 2017 Jul;30(3):146–51. PMID: 29043692. IF2017: N/A. http://www.ncbi.nlm.nih.gov/pubmed/29043692 +Pubmed
• Prada-Arias M, Vazquez JL, Salgado-Barreira A, Gomez-Veiras J, Montero-Sanchez M, Fernandez-Lorenzo JR, Vázquez JL, Salgado-Barreira Á, Gómez-Veiras J, Montero-Sánchez M, Fernández-Lorenzo JR. Diagnostic accuracy of fibrinogen to differentiate appendicitis from nonspecific abdominal pain in children. Am J Emerg Med. Elsevier Inc.; 2017 Jan;35(1):66–70. PMID: 27760719. DOI: 10.1016/j.ajem.2016.10.003. IF2017: 1.290; Q3. http://www.ncbi.nlm.nih.gov/pubmed/27760719 +Pubmed +DOI
• Rivas L, Blanco Ó, Torreira C, Repáraz A, Melcón C, Amado A. [Pontocerebellar hypoplasia secondary to CASK gene deletion: Case report]. Rev Chil Pediatr. 2017;88(4):529–33. PMID: 28898323. DOI: 10.4067/S0370-41062017000400014. IF2017: N/A. http://www.ncbi.nlm.nih.gov/pubmed/28898323 +Pubmed +DOI
• Rodríguez-Da Silva A, Miralles C, Ocampo A, Valverde D. [Prevalence study of the genetic markers associated with slow progression of human inmunodefiency virus type 1 in the Galician population (Northwest of Spain)]. Enferm Infecc Microbiol Clin. 2017 Feb;35(2):104–7. PMID: 26100217. DOI: 10.1016/j.eimc.2015.04.006. IF2017: 1.707; Q3; JCR-CAT: MICROBIOLOGY. http://www.ncbi.nlm.nih.gov/pubmed/26100217 +Pubmed +DOI
• Romero-Ventosa EY, Otero-Millán L, González-Costas S, Vilasoa-Boo P, Silva-López A, Arroyo-Conde C, Piñeiro-Corrales G. Effect of tyrosine kinase inhibitors on the glucose levels in diabetic and nondiabetic patients. Indian J Cancer. 2017;54(1):136–43. PMID: 29199677. DOI: 10.4103/ijc.IJC_190_17. IF2017: 0.658; Q4. http://www.ncbi.nlm.nih.gov/pubmed/29199677 +Pubmed +DOI
• Sánchez-Illana Á, Núñez-Ramiro A, Cernada M, Parra-Llorca A, Valverde E, Blanco D, Moral-Pumarega MT, Cabañas F, Boix H, Pavon A, Chaffanel M, Benavente-Fernández I, Tofe I, Loureiro B, Fernández-Lorenzo JR, Fernández-Colomer B, García-Robles A, Kuligowski J, Vento M, HYPOTOP Study Group. Evolution of Energy Related Metabolites in Plasma from Newborns with Hypoxic-Ischemic Encephalopathy during Hypothermia Treatment. Sci Rep. 2017 Dec;7(1):17039. PMID: 29213095. DOI: 10.1038/s41598-017-17202-7. IF2017: 4.122; Q1. http://www.ncbi.nlm.nih.gov/pubmed/29213095 +Pubmed +DOI
• Santalla A, Nogales-Gadea G, Encinar AB, Vieitez I, González-Quintana A, Serrano-Lorenzo P, Consuegra IG, Asensio S, Ballester-Lopez A, Pintos-Morell G, Coll-Cantí J, Pareja-Galeano H, Díez-Bermejo J, Pérez M, Andreu AL, Pinós T, Arenas J, Martín MA, Lucia A. Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update. BMC Genomics. 2017 Nov;18(Suppl 8):819. PMID: 29143597. DOI: 10.1186/s12864-017-4188-2. IF2017: 3.730; Q1. http://www.ncbi.nlm.nih.gov/pubmed/29143597 +Pubmed +DOI
• Vieitez I, Gallano P, González-Quereda L, Borrego S, Marcos I, Millán JM, Jairo T, Prior C, Molano J, Trujillo-Tiebas MJ, Gallego-Merlo J, García-Barcina M, Fenollar M, Navarro C, Gonzalez-Quereda L, Borrego S, Marcos I, Millan JM, Jairo T, Prior C, Molano J, Trujillo-Tiebas MJ, Gallego-Merlo J, Garcia-Barcina M, Fenollar M, Navarro C. Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases. Neurologia. 2017 Jul;32(6):377–85. PMID: 26968818. DOI: 10.1016/j.nrl.2015.12.009. IF2017: 1.938; Q3. http://www.ncbi.nlm.nih.gov/pubmed/26968818 +Pubmed +DOI
• Zozaya Nieto C, Fernández Caamaño B, Muñoz Bartolo G, Menéndez Suso JJ, Frauca Remacha E, Valverde Núñez E. Presenting Features and Prognosis of Ischemic and Nonischemic Neonatal Liver Failure. J Pediatr Gastroenterol Nutr. 2017;64(5):754–9. PMID: 28437325. DOI: 10.1097/MPG.0000000000001501. http://www.ncbi.nlm.nih.gov/pubmed/28437325 +Pubmed +DOI

Book Chapters

• Pérez-de-Lis Novo M, Pérez-Álvarez R, Pallarés-Ferreres L, Fernández-Martín JJ, Soto Cárdenas M-J, Selva-O´Callaghan A. Gastrointestinal Involvement in Inflammatory Myositis. In: Ramos Casals M, Khamashta M, Brito Zeron P, F A, Teixidor J (eds.). Digestive Involvement In Systemic Autoimmune Diseases. 2nd ed. Amsterdam, Netherlands: Elsevier Science BV; 2017. p. 263–70. ISBN: 978-0-444-63717-8; 978-0-444-63707-9. https://linkinghub.elsevier.com/retrieve/pii/B9780444637079000143 +DOI

Scientific Papers

• Balcells C, Botet F, Gayete S, Marcos MÁ, Dorronsoro I, de Alba C, Figueras-Aloy J, Castrillo Study Group (ML González). Vertically transmitted cytomegalovirus infection in newborn preterm infants. J Perinat Med. 2016 Jul;44(5):485–90. PMID: 26845714. DOI: 10.1515/jpm-2015-0325. IF2016: 1.577; Q3. http://www.ncbi.nlm.nih.gov/pubmed/26845714 +Pubmed +DOI
• Baloira A, Bastos M, Pousada G, Valverde D. Pulmonary arterial hypertension associated with hereditary spherocytosis and splenectomy in a patient with a mutation in the BMPR2 gene. Clin case reports. 2016 Aug;4(8):752–5. PMID: 27525076. DOI: 10.1002/ccr3.610. IF2016: N/A. http://www.ncbi.nlm.nih.gov/pubmed/27525076 +Pubmed +DOI
• Blanco-Barca Ó, Amado-Puentes A, Repáraz A, Melcón C, Torreira C. [Spinocerebellar ataxia-27: description of the clinical phenotype of two twin sisters with a deletion in the FGF14 gene]. Rev Neurol. 2016 Mar;62(5):238–9. PMID: 26916329. IF2016: 0.743; Q4. http://www.ncbi.nlm.nih.gov/pubmed/26916329 +Pubmed
• Diez Morrondo C, Pantoja Zarza L, San Millán Tejado B. Enfermedad de McArdle: presentación de 2 casos clínicos. Reumatol Clínica. 2016 May;12(3):161–3. PMID: 26235145. DOI: 10.1016/j.reuma.2015.06.003. IF2016: N/A. http://www.ncbi.nlm.nih.gov/pubmed/26235145 +Pubmed +DOI
• Iriondo M, Izquierdo M, Salguero E, Aguayo J, Vento M, Thió M, Grupo de Reanimación Neonatal de la Sociedad Española de Neonatología -GRN-SENeo (Eva González-Colmenero). [Five years after the Spanish neonatal resuscitation survey. Are we improving?]. An Pediatr (Barc). 2016 May;84(5):260–70. PMID: 26589102. DOI: 10.1016/j.anpedi.2015.08.014. IF2016: 1.140; Q3. http://www.ncbi.nlm.nih.gov/pubmed/26589102 +Pubmed +DOI
• Leiro-Fernández V, Valverde D, Vázquez-Gallardo R, Constenla-Caramés L, Del Campo-Pérez V, Fernández-Villar A. HLA-DQ B1*0201 and A1*0102 Alleles Are Not Responsible for Antituberculosis Drug-Induced Hepatotoxicity Risk in Spanish Population. Front Med. 2016 Aug;3:34. PMID: 27597944. DOI: 10.3389/fmed.2016.00034. IF2016: N/A. http://www.ncbi.nlm.nih.gov/pubmed/27597944 +Pubmed +DOI
• Ortolano S. Small Molecules, Substrate Inhibitors, Chaperones, Stop-Codon Read Through, and Beyond. J Inborn Errors Metab Screen. 2016 Jul;4:232640981666629. DOI: 10.1177/2326409816666297. IF2016: N/A. http://journals.sagepub.com/doi/10.1177/2326409816666297 +DOI
• Pousada G, Baloira A, Castro-Añón O, Valverde D. [Pulmonary arterial hypertension associated with human immunodeficiency virus infection: study of 4 cases]. Med Clin (Barc). 2016 Apr;146(8):350–3. PMID: 26897508. DOI: 10.1016/j.medcli.2015.12.014. IF2016: 1.125; Q3. http://www.ncbi.nlm.nih.gov/pubmed/26897508 +Pubmed +DOI
• Pousada G, Baloira A, Fontán D, Núñez M, Valverde D. Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension. BMC Genet. 2016 Jun;17(1):72. PMID: 27260700. DOI: 10.1186/s12863-016-0384-3. IF2016: 2.266; Q3. http://www.ncbi.nlm.nih.gov/pubmed/27260700 +Pubmed +DOI
• Pousada G, Baloira A, Valverde D. Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations. Sci Rep. 2016 Sep;6(1):33570. PMID: 27630060. DOI: 10.1038/srep33570. IF2016: 4.259; Q1. http://www.ncbi.nlm.nih.gov/pubmed/27630060 +Pubmed +DOI
• Pousada G, Baloira A, Valverde D. Methylation Analysis of the BMPR2 Gene Promoter Region in Patients With Pulmonary Arterial Hypertension. Arch Bronconeumol. 2016 Jun;52(6):293–8. PMID: 26654628. DOI: 10.1016/j.arbres.2015.10.006. IF2016: 2.979; Q2. http://www.ncbi.nlm.nih.gov/pubmed/26654628 +Pubmed +DOI
• Romero Jiménez RM, Gomis Muñoz P, Crespo C, Piñeiro G, Pérez-Pons JC, García Rodicio S, Ripa Ciaurriz C, Gimeno Ballester V, Vázquez C, Cervera M, Calvo MV, Tejada P. [Training degree assessment of staff producing parenteral nutrition in Pharmacy Services]. Farm Hosp. 2016 Nov;40(n06):486–90. PMID: 27894222. DOI: 10.7399/fh.2016.40.6.10431. IF2016: N/A. http://www.ncbi.nlm.nih.gov/pubmed/27894222 +Pubmed +DOI
• Romero-Ventosa EY, Pérez-Landeiro A, Leboreiro-Enríquez B, Rubianes-González M, Lamas-Domínguez P, Pineiro-Corrales G. Short Stay Unit and Emergency Department: Pharmacotherapeutic Interventions and Its Impact. Am J Ther. 2016 Dec;23(6):e1307–14. PMID: 26938748. DOI: 10.1097/MJT.0000000000000204. IF2016: 1.588; Q4. http://www.ncbi.nlm.nih.gov/pubmed/26938748 +Pubmed +DOI
• San Millan B, Fernandez JM, Navarro C, Reparaz A, Teijeira S. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up. Clin Neuropathol. 2016 Mar;35(2):58–65. PMID: 26709713. DOI: 10.5414/NP300902. IF2016: 1.532; Q3. http://www.ncbi.nlm.nih.gov/pubmed/26709713 +Pubmed +DOI
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• von Zglinicki T, Varela Nieto I, Brites D, Karagianni N, Ortolano S, Georgopoulos S, Cardoso AL, Novella S, Lepperdinger G, Trendelenburg A-U, van Os R. Frailty in mouse ageing: A conceptual approach. Mech Ageing Dev. Elsevier Ireland Ltd; 2016 Dec;160:34–40. PMID: 27443148. DOI: 10.1016/j.mad.2016.07.004. IF2016: 3.087; Q2. http://www.ncbi.nlm.nih.gov/pubmed/27443148 +Pubmed +DOI

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• Resende E, G?mez GN, Nascimento M, Loidi L, Saborido Fiaño R, Cabanas Rodr?guez P, Castro-Feijoo L, Barreiro Conde J. Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation. Hormones (Athens). 2015 Apr;14(2):312–6. PMID: 25402387. DOI: 10.14310/horm.2002.1513. IF2015: 1.190; Q4. http://www.ncbi.nlm.nih.gov/pubmed/25402387 +Pubmed +DOI
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• Sánchez-Galán A, Andres AM, Fernández-Caamaño B, Vilanova A, Dominguez E, Ortiz R, Prieto G, Lopez-Santamaria M, Tovar JA. Ulcerative ileitis after proctocolectomy in children: a complication of ulcerative colitis or a disease in itself after ileoanal pullthrough? Eur J Pediatr Surg. 2015 Feb;25(1):51–5. PMID: 25144351. DOI: 10.1055/s-0034-1386643. http://www.ncbi.nlm.nih.gov/pubmed/25144351 +Pubmed +DOI

Scientific Papers

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