Enfermedades Raras y Medicina Pediátrica

Artículos Científicos

• 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. +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. +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. +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. +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;(E-PUB):1–8. PMID: 33043834. DOI: 10.1080/10550887.2020.1831137. +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 Mar;(E-PUB) PMID: 32227079. DOI: 10.1093/jat/bkaa027. +Pubmed +DOI
• Martinez-Lopez-de-Castro N, Alvarez-Payero M, Samartin-Ucha M, Martin-Vila A, Pineiro-Corrales G, Rodriguez-Rodriguez M, Maceiras-Pan FJ, Melero-Gonzalez 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. +Pubmed +DOI
• 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. +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. +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. +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. +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. +Pubmed +DOI

Artículos Científicos

• 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. +Pubmed +DOI
• Arnaez J, Herranz-Rubia N, Garcia-Alix A, ESP-EHI Group (A Concheiro-Guisán). 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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. Enlace

Capítulos de libro

• 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 Enlace

Artículos Científicos

• Allegue F, Fachal C, González-Vilas D, Zulaica A. Atrophying Pityriasis Versicolor. Actas Dermosifiliogr. 2018 Jun;109(5):455–7. PMID: 29249261. DOI: 10.1016/j.ad.2017.08.013. +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. +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. +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. +Pubmed +DOI
• 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. +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. +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. +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. +Pubmed +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. 2018 Apr;13(1):52. PMID: 29631605. DOI: 10.1186/s13023-018-0792-8. +Pubmed +DOI

Guías de Práctica Clínica

• 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 Enlace

Artículos Científicos

• Alvarez-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. +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. +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. +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. +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. +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. +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. 2017 Aug;176(8):1075–81. PMID: 28646478. DOI: 10.1007/s00431-017-2950-8. IF2017: 2.242; Q2. +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. +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. +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. +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. +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. 2017 May;34(5):617–25. PMID: 28281144. DOI: 10.1007/s10815-017-0897-3. +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. Enlace
• 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. +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. +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. +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. +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. +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. 2017 Jan;35(1):66–70. PMID: 27760719. DOI: 10.1016/j.ajem.2016.10.003. IF2017: 1.290; Q3. +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. +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. +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. +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. +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. +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. +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. +Pubmed +DOI

Capítulos de libro

• 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

Artículos Científicos

• 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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +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. +Pubmed +DOI
• Silva JT, San-Juan R, Fernández-Caamaño B, Prieto-Bozano G, Fernández-Ruiz M, Lumbreras C, Calvo-Pulido J, Jiménez-Romero C, Resino-Foz E, López-Medrano F, Lopez-Santamaria M, Maria Aguado J. Infectious Complications Following Small Bowel Transplantation. Am J Transplant. 2016 Mar;16(3):951–9. PMID: 26560685. DOI: 10.1111/ajt.13535. +Pubmed +DOI
• 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. 2016 Dec;160:34–40. PMID: 27443148. DOI: 10.1016/j.mad.2016.07.004. IF2016: 3.087; Q2. +Pubmed +DOI

Artículos Científicos

• Álvarez-Satta M, Castro-Sánchez S, Valverde D. Alström syndrome: current perspectives. Appl Clin Genet. 2015 Jan;8:171–9. PMID: 26229500. DOI: 10.2147/TACG.S56612. IF2015: N/A. +Pubmed +DOI
• Anton J, Calvo I, Fernández-Martin J, Gamir ML, Merino R, Jimenez-Treviño S, Sevilla B, Cabades F, Bou R, Arostegui JI. Efficacy and safety of canakinumab in cryopyrin-associated periodic syndromes: results from a Spanish cohort. Clin Exp Rheumatol. 2015 Nov;33(6 Suppl 94):S67-71. PMID: 26243511. IF2015: 2.495; Q2. +Pubmed
• Baena Parejo MI, Juanes Borrego AM, Altimiras Ruiz J, Crespí Monjó M, García-Peláez M, Calderón Hernanz B, Calleja Hernández MÁ, Chinchilla Fernández MI, Prats Riera M, García Sánchez R, García Sánchez L, Vázquez López C, Mauleon Echeverria MD, Mas Serrano P. Medication list assessment in Spanish hospital emergency departments. J Emerg Med. 2015 Apr;48(4):416–23. PMID: 25547811. DOI: 10.1016/j.jemermed.2014.06.063. IF2015: 1.048; Q3. +Pubmed +DOI
• Beck M, Hughes D, Kampmann C, Larroque S, Mehta A, Pintos-Morell G, Ramaswami U, West M, Wijatyk A, Giugliani R, Fabry Outcome Survey Study Group. Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis. Mol Genet Metab reports. 2015 Jun;3:21–7. PMID: 26937390. DOI: 10.1016/j.ymgmr.2015.02.002. IF2015: N/A. +Pubmed +DOI
• Bernabeu Soria B, Mateo García M, Wanden-Berghe C, Cervera Peris M, Piñeiro Corrales G, Sanz-Valero J. Development of the management for parenteral nutrition traceability in a standard hospital. Farm Hosp. 2015 Nov;39(6):358–77. PMID: 26618380. DOI: 10.7399/fh.2015.39.6.9689. IF2015: N/A. +Pubmed +DOI
• Cámara Y, Carreño-Gago L, Martín MA, Melià MJ, Blázquez A, Delmiro A, Garrabou G, Morén C, Díaz-Manera J, Gallardo E, Bornstein B, López-Gallardo E, Hernández-Lain A, San-Millán-Tejado B, Cancho E, Rodríguez-Vico JS, Martí R, García-Arumí E. Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy. Neurology. 2015 Jun;84(22):2286–8. PMID: 25948719. DOI: 10.1212/WNL.0000000000001644. IF2015: 8.166; D1. +Pubmed +DOI
• Cameselle-Teijeiro J, Fachal C, Cabezas-Agrícola JM, Alfonsín-Barreiro N, Abdulkader I, Vega-Gliemmo A, Hermo JA. Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome. Am J Clin Pathol. 2015 Aug;144(2):322–8. PMID: 26185318. DOI: 10.1309/AJCP84INGJUVTBME. IF2015: 2.278; Q2. +Pubmed +DOI
• Castillo Salinas F, Elorza Fernández D, Gutiérrez Laso A, Moreno Hernando J, Bustos Lozano G, Gresa Muñoz M, López de Heredia Goya J, Aguar Carrascosa M, Miracle Echegoyen X, Fernández Lorenzo J, Serrano MM, Concheiro Guisan A, Carrasco Carrasco C, Comuñas Gómez JJ, Moral Pumarega MT, Sánchez Torres AM, Franco ML, en representación del Grupo Respiratorio y Surfactante de la Sociedad Española de Neonatología. [Recommendations for respiratory support in the newborn (iii). Surfactant and nitric oxide]. An Pediatr (Barc). 2015 Nov;83(5):354.e1-6. PMID: 25840706. DOI: 10.1016/j.anpedi.2015.02.012. IF2015: 0.773; Q4. +Pubmed +DOI
• Castro-Sánchez S, Álvarez-Satta M, Cortón M, Guillén E, Ayuso C, Valverde D. Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families. J Med Genet. 2015 Aug;52(8):503–13. PMID: 26082521. DOI: 10.1136/jmedgenet-2015-103099. IF2015: 5.650; Q1. +Pubmed +DOI
• Castro-Sánchez S, Álvarez-Satta M, Pereiro I, Piñeiro-Gallego MT, Valverde D. [Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain]. Med Clin (Barc). 2015 Aug;145(4):147–52. PMID: 25087209. DOI: 10.1016/j.medcli.2014.05.037. IF2015: 1.267; Q2. +Pubmed +DOI
• Fernández Caamaño B, Quiles Blanco MJ, Fernández Tomé L, Burgos Lizáldez E, Sarría Osés J, Molina Arias M, Prieto Bozano G. [Intestinal failure and transplantation in microvillous inclusion disease]. An Pediatr (Barc). 2015 Sep;83(3):160–5. PMID: 25547668. DOI: 10.1016/j.anpedi.2014.11.013. +Pubmed +DOI
• Fernández Caamaño B, Ramos Boluda E, Martínez-Ojinaga Nodal E, Molina Arias M, Sarría Osés J, Prieto Bozano G. [Ménétrie?s disease associated with cytomegalovirus infection]. An Pediatr (Barc). 2015 Jan;82(1):e113-6. PMID: 24666786. DOI: 10.1016/j.anpedi.2014.02.019. +Pubmed +DOI
• Fernandez Eire P, Lemos Bouzas MX, Ortiz Rey JA, Herreros Villaraviz M, Prada Arias M. Benign cystic mesothelioma in a boy: An uncommon case mimicking a lymphangioma. J Paediatr Child Health. 2015 Aug;51(8):841–2. PMID: 26223760. DOI: 10.1111/jpc.12961. IF2015: 1.477; Q3. +Pubmed +DOI
• Figueras Aloy J, Carbonell Estrany X, Comité de Estándares de la SENeo (JR Fernánez-Lorenzo). [Update of recommendations on the use of palivizumab as prophylaxis in RSV infections]. An Pediatr (Barc). 2015 Mar;82(3):199.e1-2. PMID: 25453311. DOI: 10.1016/j.anpedi.2014.10.004. IF2015: 0.773; Q4. +Pubmed +DOI
• Liu H-C, Perrin A, Hsu T-R, Yang C-F, Lin H-Y, Yu W-C, Niu D-M. Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G+Pubmed +DOI
• Martinón-Torres F, Czajka H, Center KJ, Wysocki J, Majda-Stanislawska E, Omeñaca F, Bernaola Iturbe E, Blazquez Gamero D, Concheiro-Guisán A, Gimenez-Sanchez F, Szenborn L, Giardina PC, Patterson S, Gruber WC, Scott DA, Gurtman A. 13-valent pneumococcal conjugate vaccine (PCV13) in preterm versus term infants. Pediatrics. 2015 Apr;135(4):e876-86. PMID: 25780077. DOI: 10.1542/peds.2014-2941. IF2015: 5.196; D1. +Pubmed +DOI
• Mirás A, Dolores Bóveda M, Leis MR, Mera A, Aldámiz-Echevarría L, Fernández-Lorenzo JR, Fraga JM, Couce ML. Corrigendum to “Risk factors for developing mineral bone disease in phenylketonuric patients” [Mol. Genet. Metab. 108 (2013) 149-154]. Mol Genet Metab. 2015 Mar;114(3):483. PMID: 25877473. DOI: 10.1016/j.ymgme.2015.01.008. IF2015: 3.093; Q2. +Pubmed +DOI
• Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, Cañellas J, Takei S, Kobayashi N, Callejas-Rubio JL, Ortego-Centeno N, Ruiz-Ortiz E, Rius F, Anton J, Iglesias E, Jimenez-Treviño S, Vargas C, Fernandez-Martin J, Calvo I, Hernández-Rodríguez J, Mendez M, Dordal MT, Basagaña M, Bujan S, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI. Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. Ann Rheum Dis. 2015 Mar;74(3):603–10. PMID: 24326009. DOI: 10.1136/annrheumdis-2013-204361. IF2015: 12.384; D1. +Pubmed +DOI
• Pousada G, Baloira A, Valverde D. Molecular and clinical analysis of TRPC6 and AGTR1 genes in patients with pulmonary arterial hypertension. Orphanet J Rare Dis. 2015 Jan;10:1. PMID: 25603901. DOI: 10.1186/s13023-014-0216-3. IF2015: 3.290; Q2. +Pubmed +DOI
• Pousada G, Baloira A, Valverde D. Pulmonary arterial hypertension and portal hypertension in a patient with hereditary hemorrhagic telangiectasia. Med Clin (Barc). 2015 Mar;144(6):261–4. PMID: 25543221. DOI: 10.1016/j.medcli.2014.09.024. IF2015: 1.267; Q2. +Pubmed +DOI
• Pousada G, Baloira A, Vilariño C, Valverde D. [K198N polymorphism in the EDN1 gene in patients with pulmonary arterial hypertension]. Med Clin (Barc). 2015 Apr;144(8):348–52. PMID: 24529882. DOI: 10.1016/j.medcli.2013.11.037. IF2015: 1.267; Q2. +Pubmed +DOI
• 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. +Pubmed +DOI
• Rodríguez-Fanjul J, Fernández-Feijóo CD, Camprubí MC. A New Technique for Collection of Cerebrospinal Fluid in Rat Pups. J Exp Neurosci. 2015 May;9:37–41. PMID: 26056488. DOI: 10.4137/JEN.S26182. IF2015: N/A. +Pubmed +DOI
• Romero-Ventosa EY, Blanco-Prieto S, González-Piñeiro AL, Rodríguez-Berrocal FJ, Piñeiro-Corrales G, Páez de la Cadena M. Pretreatment levels of the serum biomarkers CEA, CYFRA 21-1, SCC and the soluble EGFR and its ligands EGF, TGF-alpha, HB-EGF in the prediction of outcome in erlotinib treated non-small-cell lung cancer patients. Springerplus. 2015 Apr;4:171. PMID: 25918681. DOI: 10.1186/s40064-015-0891-0. IF2015: 0.982; Q2. +Pubmed +DOI
• Rosé CD, Pans S, Casteels I, Anton J, Bader-Meunier B, Brissaud P, Cimaz R, Espada G, Fernandez-Martin J, Hachulla E, Harjacek M, Khubchandani R, Mackensen F, Merino R, Naranjo A, Oliveira-Knupp S, Pajot C, Russo R, Thomée C, Vastert S, Wulffraat N, Arostegui JI, Foley KP, Bertin J, Wouters CH. Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. Rheumatology (Oxford). 2015 Jun;54(6):1008–16. PMID: 25416713. DOI: 10.1093/rheumatology/keu437. IF2015: 4.524; Q1. +Pubmed +DOI
• 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. +Pubmed +DOI

Artículos Científicos

• Alvarez Payero M, Martínez López de Castro N, Ucha Samartín M, Martín Vila A, Vázquez López C, Piñeiro Corrales G. Medication non-adherence as a cause of hospital admissions. Farm Hosp. 2014 Jul;38(4):328–33. PMID: 25137166. DOI: 10.7399/fh.2014.38.4.7660. IF: N/A. +Pubmed +DOI
• Álvarez-Satta M, Castro-Sánchez S, Pereiro I, Piñeiro-Gallego T, Baiget M, Ayuso C, Valverde D. Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. Clin Genet. 2014 Dec;86(6):601–2. PMID: 24611592. DOI: 10.1111/cge.12334. IF: 3.931; Q2. +Pubmed +DOI
• Amado-Puentes A, Blanco-Barca Ó, Coll MJ, Sobrido MJ. [Disease due to lysosomal deposits with differential peculiarities: type II GM1 gangliosidosis]. Rev Neurol. 2014 Apr;58(8):382–3. PMID: 24723181. IF: 0.83; Q4. +Pubmed
• Carreira Delgado M, Fernández Rodríguez E, Nuño Vázquez-Garza JM, Gil Llorens C, Vázquez López C. Intestinal obstruction caused by recurrent phytobezoar: resolved with non-surgical treatment with cellulase. Cirugía española. 2014 Jan;92(6):434–5. PMID: 23036257. DOI: 10.1016/j.ciresp.2012.07.008. IF: 0.743; Q4. +Pubmed +DOI
• Concheiro-Guisan A, Concheiro M. Bioanalysis during pregnancy: recent advances and novel sampling strategies. Bioanalysis. 2014;6(23):3133–53. PMID: 25529882. DOI: 10.4155/bio.14.278. IF: 3.003; Q1. +Pubmed +DOI
• García-Pacheco SA, Blanco-Rivas R, Campos-García S. Rellenos de polialquilamida en lipodistrofia facial asociada al virus de la inmunodeficiencia humana: complicaciones oftalmológicas. Arch la Soc Espan?ola Oftalmol. 2014 Oct;89(10):421–4. PMID: 24269457. DOI: 10.1016/j.oftal.2013.01.011. IF: N/A. +Pubmed +DOI
• Nuñez Fernández MJ, Fachal Bermúdez C, Duran Muñoz D, Figueroa López RM, Sopeña Pérez-Argüelles B, García García JC, Anibarro García L. IgG4-related disease and isolated thoracic aortic aneurysm. Vasa. 2014 Sep;43(5):385–9. PMID: 25147016. DOI: 10.1024/0301-1526/a000375. IF: 1.000; Q4. +Pubmed +DOI
• Olivera-Fernandez R, Fernandez-Ribeiro F, Piñeiro-Corrales G, Crespo-Diz C. [Adherence to oral antineoplastic therapy]. Farm Hosp. 2014 Nov;38(6):475–81. PMID: 25542658. DOI: 10.7399/fh.2014.38.6.8061. IF: N/A. +Pubmed +DOI
• Ortolano S, Vieitez I, Agis-Balboa RC, Spuch C. Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease. Mol Brain. 2014 Jan;7:7. PMID: 24472629. DOI: 10.1186/1756-6606-7-7. IF: 4.902; Q1. +Pubmed +DOI
• Ortolano S, Viéitez I, Navarro C, Spuch C. Treatment of lysosomal storage diseases: recent patents and future strategies. Recent Pat Endocr Metab Immune Drug Discov. 2014 Jan;8(1):9–25. PMID: 24433521. IF: N/A. +Pubmed
• Pérez-Muñuzuri A, Couce-Pico ML, Baña-Souto A, López-Suárez O, Iglesias-Deus A, Blanco-Teijeiro J, Fernández-Lorenzo JR, Fraga-Bermúdez JM. Preclinical screening for retinopathy of prematurity risk using IGF1 levels at 3 weeks post-partum. PLoS One. 2014 Jan;9(2):e88781. PMID: 24523937. DOI: 10.1371/journal.pone.0088781. IF2014: 3.234; Q1. +Pubmed +DOI
• Piñeiro Corrales G, Vazquez Lopez C, Alvarez Payero M, Vázquez López C, Álvarez Payero M. Efecto del tratamiento farmacológico en el estado nutricional del paciente neurológico [Effect of pharmacologic treatment of the nutritional status of neurologic patients]. Nutr Hosp. 2014 Jan;29 Suppl 2:47–56. PMID: 25077345. IF: 1.040; Q4. +Pubmed
• Pousada G, Baloira A, Vilariño C, Cifrian JM, Valverde D. Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension. PLoS One. 2014 Jan;9(6):e100261. PMID: 24936649. DOI: 10.1371/journal.pone.0100261. IF2014: 3.234; Q1. +Pubmed +DOI
• Prada-Arias M, Vázquez-Castelo JL, Blanco-Lobato P, Gómez-Veiras J, Montero-Sánchez M, Vieito-Fuentes JM. Exceptional Mirizzi syndrome in a young child: A laparoscopic approach. J Pediatr Surg Case Reports. 2014 Oct;2(10):446–9. DOI: 10.1016/j.epsc.2014.09.001. IF: N/A. +DOI
• Raspall-Chaure M, Martinez-Bermejo A, Sanchez-Carpintero R, Ruiz-Falco Rojas ML, Verdu-Perez A, Smeyers-Dura P, Camino-Leon R, Sanmarti FX, Santos-Borbujo J, Pico G, Blanco-Barca O, Cebollero MA. [Cost-effectiveness of buccal midazolam in the treatment of prolonged convulsive seizures in the outpatient setting in Spain]. Rev Neurol. 2014 Jun;58(11):481–6. PMID: 24861222. IF: 0.83; Q4. +Pubmed
• Rodriguez-Pecci MS, de la Fuente-Aguado J, Pato-Pato A, San Millan-Tejado B. Diplopía aislada como forma de presentación de CADASIL: a propósito de un caso [Isolated diplopia as a form of presentation of CADASIL: presentation of a case]. Neurologia. 2014 Jan;29(1):56–9. PMID: 22749569. DOI: 10.1016/j.nrl.2012.02.008. IF2014: 1.381; Q4. +Pubmed +DOI
• Sánchez-Carpintero R, Camino R, Smeyers P, Raspall-Chaure M, Martínez-Bermejo A, Ruiz-Falcó ML, Verdú A, Sanmarti FX, Blanco O, Santos Borbujo J, Picó G, Cebollero MA. [Use of benzodiazepines in prolonged seizures and status epilepticus in the community]. An Pediatr (Barc). 2014 Dec;81(6):400.e1-6. PMID: 25441206. DOI: 10.1016/j.anpedi.2014.03.023. IF: 0.833; Q4. +Pubmed +DOI
• Ucha Sanmartin M, Martín Vila A, López Vidal C, Caaamaño Barreiro M, Piñeiro Corrales G. [Prevention of medication errors in healthcare transition of patients treated with apomorphine]. Farm Hosp. 2014 May;38(3):227–30. PMID: 24951908. DOI: 10.7399/fh.2014.38.3.7430. IF: N/A. +Pubmed +DOI