Enfermedades Raras y Medicina Pediátrica

Artículos Científicos

• García-Mayor RV, 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 Feb;63(2):316-322. doi: 10.1007/s12020-018-1785-z. Epub 2018 Oct 17. PubMed PMID: 30334140. +Pubmed
• 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. doi: 10.1017/S096719941800059X. Epub 2018 Dec 5. Review. PubMed PMID: 30516453. +Pubmed

Artículos Científicos

• Allegue F, Fachal C, González-Vilas D, Zulaica A. Atrophying Pityriasis Versicolor. Actas Dermosifiliogr. 2018 Jun;109(5):455-7. PMID: 29249261. http://www.ncbi.nlm.nih.gov/pubmed/29249261 +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. http://www.ncbi.nlm.nih.gov/pubmed/30071357 +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. IF2016: 1.455; Q3. 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 27;31(6):681-687. doi: 10.1515/jpem-2017-0418. PubMed PMID: 29715191. +Pubmed +DOI
• Martínez-López De Castro N, Samartín- Ucha M, Martín-Vila A, Álvarez-Payero M, Pineiro-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. 2018 Jan;E-PUB:ejhpharm-2017-001402. DOI: 10.1136/ejhpharm-2017-001402. http://dx.doi.org/10.1136/ejhpharm-2017-001402 +DOI
• Nunez A, Benavente I, Blanco D, Boix H, Cabanas 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. IF2016: 1.140; Q3. http://www.ncbi.nlm.nih.gov/pubmed/28648366 +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 Aug 10;151(3):111-115. doi: 10.1016/j.medcli.2018.01.023. Epub 2018 Mar 8. English, Spanish. PubMed PMID: 29526310. +Pubmed +DOI
• Pousada G, Lago-Docampo M, Prado S, Varela-Calvino R, Mantinán 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):1538-1547. doi: 10.1111/jcmm.13425. Epub 2017 Dec 20. PubMed PMID: 29266775; PubMed Central PMCID: PMC5824380. +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. IF2016: 1.140; Q3. 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 27;8(1):5285. doi: 10.1038/s41598-018-23520-1. PubMed PMID: 29588463; PubMed Central PMCID: PMC5869593. +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. IF2016: 1.140; Q3. http://www.ncbi.nlm.nih.gov/pubmed/28479005 +Pubmed +DOI
• 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. http://www.ncbi.nlm.nih.gov/pubmed/29631605 +Pubmed +DOI

Artículos Científicos

• Alvarez-Payero M, Valeiras-Munoz C, Lion-Vázquez S, Pineiro-Corrales G, Munoz-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. 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 Oct;21(10):2268-2275. doi: 10.1111/jcmm.13147. Epub 2017 May 13. PubMed PMID: 28502102; PubMed Central PMCID: PMC5618670. +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 31;4:55. doi: 10.3389/fmolb.2017.00055. eCollection 2017. Review. PubMed PMID: 28824921; PubMed Central PMCID: PMC5534436. +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. 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. 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 Aug 11;12(8):e0183081. doi: 10.1371/journal.pone.0183081. eCollection 2017. PubMed PMID: 28800606; PubMed Central PMCID: PMC5553726. +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. 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, Penas-Silva P, Macias-Cortina 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. IF2017: 2.993; Q1. http://www.ncbi.nlm.nih.gov/pubmed/27595432 +Pubmed +DOI
• Duran Fernandez-Feijoo C, Carrasco Carrasco C, Villalmazo Francisco N, Cebria 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. IF2017: 2.766; Q1. http://www.ncbi.nlm.nih.gov/pubmed/28542302 +Pubmed +DOI
• Fernandez-Eire P, Vazquez Castelo JL, Herreros Villaraviz M, Fernandez Caamano 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. 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. 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. 2017 May;34(5):617-625. doi: 10.1007/s10815-017-0897-3. Epub 2017 Mar 9. PubMed PMID: 28281144; PubMed Central PMCID: PMC5427648. +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
• Martinón-Torres F, Wysocki J, Center KJ, Czajka H, Majda-Stanislawska E, Omenaca 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. 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. 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 7;148(7):310-313. doi: 10.1016/j.medcli.2017.01.020. Epub 2017 Feb 27. English, Spanish. PubMed PMID: 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. 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. 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. 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. 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, Pineiro-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. IF2017: 0.658; Q4. http://www.ncbi.nlm.nih.gov/pubmed/29199677 +Pubmed +DOI
• Sánchez-Illana Á, Núnez-Ramiro A, Cernada M, Parra-Llorca A, Valverde E, Blanco D, Moral-Pumarega MT, Cabanas 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. 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. 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. IF2017: 1.938; Q3. http://www.ncbi.nlm.nih.gov/pubmed/26968818 +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. +Info 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. 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. 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. 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 Espanola 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. 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. 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-Anón 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. IF2016: 1.125; Q3. http://www.ncbi.nlm.nih.gov/pubmed/26897508 +Pubmed +DOI
• Pousada G, Baloira A, Fontán D, Núnez 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. 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. 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. IF2016: 2.979; Q2. http://www.ncbi.nlm.nih.gov/pubmed/26654628 +Pubmed +DOI
• Romero Jiménez RM, Gomis Munoz P, Crespo C, Pineiro 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. 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. 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. IF2016: 1.532; Q3. http://www.ncbi.nlm.nih.gov/pubmed/26709713 +Pubmed +DOI
• Sánchez-Pintos P, Pérez-Munuzuri A, Cocho JÁ, Fernández-Lorenzo JR, Fraga JM, Couce ML. Evaluation of carnitine deficit in very low birth weight preterm newborns small for their gestational age. J Matern Fetal Neonatal Med. 2016 Mar;29(6):933-7. PMID: 25777790. IF2016: 1.823; Q3. http://www.ncbi.nlm.nih.gov/pubmed/25777790 +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. Elsevier Ireland Ltd; 2016 Dec;160:34-40. PMID: 27443148. IF2016: 3.087; Q2. http://www.ncbi.nlm.nih.gov/pubmed/27443148 +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. IF2015: N/A. http://www.ncbi.nlm.nih.gov/pubmed/26229500 +Pubmed +DOI
• Anton J, Calvo I, Fernández-Martin J, Gamir ML, Merino R, Jimenez-Trevino 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. http://www.ncbi.nlm.nih.gov/pubmed/26243511 +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. IF2015: 1.048; Q3. http://www.ncbi.nlm.nih.gov/pubmed/25547811 +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. The Authors; 2015 Jun;3:21-7. PMID: 26937390. IF2015: N/A. http://www.ncbi.nlm.nih.gov/pubmed/26937390 +Pubmed +DOI
• Bernabeu Soria B, Mateo García M, Wanden-Berghe C, Cervera Peris M, Pineiro 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. IF2015: N/A. http://www.ncbi.nlm.nih.gov/pubmed/26618380 +Pubmed +DOI
• Cámara Y, Carreno-Gago L, Martín MA, Melia 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. IF2015: 8.166; D1. http://www.ncbi.nlm.nih.gov/pubmed/25948719 +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. IF2015: 2.278; Q2. http://www.ncbi.nlm.nih.gov/pubmed/26185318 +Pubmed +DOI
• Castillo Salinas F, Elorza Fernández D, Gutiérrez Laso A, Moreno Hernando J, Bustos Lozano G, Gresa Munoz M, López de Heredia Goya J, Aguar Carrascosa M, Miracle Echegoyen X, Fernández Lorenzo J, Serrano MM, Concheiro Guisan A, Carrasco Carrasco C, Comunas Gómez JJ, Moral Pumarega MT, Sánchez Torres AM, Franco ML, en representación del Grupo Respiratorio y Surfactante de la Sociedad Espanola 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. IF2015: 0.773; Q4. http://www.ncbi.nlm.nih.gov/pubmed/25840706 +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. IF2015: 5.650; Q1. http://www.ncbi.nlm.nih.gov/pubmed/26082521 +Pubmed +DOI
• Castro-Sánchez S, Álvarez-Satta M, Pereiro I, Pineiro-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. IF2015: 1.267; Q2. http://www.ncbi.nlm.nih.gov/pubmed/25087209 +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. IF2015: 1.477; Q3. http://www.ncbi.nlm.nih.gov/pubmed/26223760 +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. IF2015: 0.773; Q4. http://www.ncbi.nlm.nih.gov/pubmed/25453311 +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, Omenaca 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. IF2015: 5.196; D1. http://www.ncbi.nlm.nih.gov/pubmed/25780077 +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. IF2015: 3.093; Q2. http://www.ncbi.nlm.nih.gov/pubmed/25877473 +Pubmed +DOI
• Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, Canellas J, Takei S, Kobayashi N, Callejas-Rubio JL, Ortego-Centeno N, Ruiz-Ortiz E, Rius F, Anton J, Iglesias E, Jimenez-Trevino S, Vargas C, Fernandez-Martin J, Calvo I, Hernández-Rodríguez J, Mendez M, Dordal MT, Basagana 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. IF2015: 12.384; D1. http://www.ncbi.nlm.nih.gov/pubmed/24326009 +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. IF2015: 3.290; Q2. http://www.ncbi.nlm.nih.gov/pubmed/25603901 +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. IF2015: 1.267; Q2. http://www.ncbi.nlm.nih.gov/pubmed/25543221 +Pubmed +DOI
• Pousada G, Baloira A, Vilarino 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. IF2015: 1.267; Q2. http://www.ncbi.nlm.nih.gov/pubmed/24529882 +Pubmed +DOI
• Resende E, G?mez GN, Nascimento M, Loidi L, Saborido Fiano 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. IF2015: 1.190; Q4. http://www.ncbi.nlm.nih.gov/pubmed/25402387 +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. IF2015: N/A. http://www.ncbi.nlm.nih.gov/pubmed/26056488 +Pubmed +DOI
• Romero-Ventosa EY, Blanco-Prieto S, González-Pineiro AL, Rodríguez-Berrocal FJ, Pineiro-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. IF2015: 0.982; Q2. http://www.ncbi.nlm.nih.gov/pubmed/25918681 +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. IF2015: 4.524; Q1. http://www.ncbi.nlm.nih.gov/pubmed/25416713 +Pubmed +DOI

Artículos Científicos

• Alvarez Payero M, Martínez López de Castro N, Ucha Samartín M, Martín Vila A, Vázquez López C, Pineiro Corrales G. Medication non-adherence as a cause of hospital admissions. Farm Hosp. 2014 Jul;38(4):328-33. PMID: 25137166. IF: N/A. http://www.ncbi.nlm.nih.gov/pubmed/?term=25137166 +Pubmed +DOI
• Álvarez-Satta M, Castro-Sánchez S, Pereiro I, Pineiro-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. IF: 3.931; Q2. http://www.ncbi.nlm.nih.gov/pubmed/24611592 +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. http://www.ncbi.nlm.nih.gov/pubmed/24723181 +Pubmed
• Botet F, Figueras Aloy J, Álvarez E, de Alba C, Dorronsolo I, Echaniz Urcelay I, Rite S, Moreno J, Fernández-Lorenzo JR, Herranz Carrillo G, Salguero E, Sánchez Luna M. [Universal cytomegalovirus infection screening in premature newborns less than 1500 g]. An Pediatr (Barc). 2014 Oct;81(4):256.e1-4. PMID: 24560731. IF: 0.833; Q4. http://www.ncbi.nlm.nih.gov/pubmed/24560731 +Pubmed +DOI
• Carreira Delgado M, Fernández Rodríguez E, Nuno Vázquez-Garza JM, Gil Llorens C, Vázquez López C. Intestinal obstruction caused by recurrent phytobezoar: resolved with non-surgical treatment with cellulase. Cirugía espanola. 2014 Jan;92(6):434-5. PMID: 23036257. IF: 0.743; Q4. http://www.ncbi.nlm.nih.gov/pubmed/23036257 +Pubmed +DOI
• Concheiro-Guisan A, Concheiro M. Bioanalysis during pregnancy: recent advances and novel sampling strategies. Bioanalysis. 2014;6(23):3133-53. PMID: 25529882. IF: 3.003; Q1. http://www.ncbi.nlm.nih.gov/pubmed/25529882 +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. IF: N/A. http://www.ncbi.nlm.nih.gov/pubmed/24269457 +Pubmed +DOI
• Nunez Fernández MJ, Fachal Bermúdez C, Duran Munoz D, Figueroa López RM, Sopena 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. IF: 1.000; Q4. http://www.ncbi.nlm.nih.gov/pubmed/25147016 +Pubmed +DOI
• Olivera-Fernandez R, Fernandez-Ribeiro F, Pineiro-Corrales G, Crespo-Diz C. [Adherence to oral antineoplastic therapy]. Farm Hosp. 2014 Nov;38(6):475-81. PMID: 25542658. IF: N/A. http://www.ncbi.nlm.nih.gov/pubmed/25542658 +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. IF: 4.902; Q1. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3917365&tool=pmcentrez&rendertype=abstract +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. http://www.ncbi.nlm.nih.gov/pubmed/24433521 +Pubmed
• Pallás Alonso CR, Rodríguez López J, Comité de Estándares de Sociedad Espanola de Neonatología (Col. JR Fernández-Lorenzo). [Factors associated with the safety of early skin-to-skin contact after delivery]. An Pediatr (Barc). 2014 Apr;80(4):203-5. PMID: 24613296. IF: 0.833; Q4. http://www.ncbi.nlm.nih.gov/pubmed/24613296 +Pubmed +DOI
• Pérez-Munuzuri A, Couce-Pico ML, Bana-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. IF2014: 3.234; Q1. http://www.ncbi.nlm.nih.gov/pubmed/24523937 +Pubmed +DOI
• Pineiro 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. http://www.ncbi.nlm.nih.gov/pubmed/25077345 +Pubmed
• Pousada G, Baloira A, Vilarino 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. IF2014: 3.234; Q1. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=4061078&tool=pmcentrez&rendertype=abstract +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. http://www.sciencedirect.com/science/article/pii/S2213576614001201 +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. http://www.ncbi.nlm.nih.gov/pubmed/24861222 +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. IF2014: 1.381; Q4. http://www.ncbi.nlm.nih.gov/pubmed/22749569 +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. IF: 0.833; Q4. http://www.ncbi.nlm.nih.gov/pubmed/25441206 +Pubmed +DOI
• Ucha Sanmartin M, Martín Vila A, López Vidal C, Caaamano Barreiro M, Pineiro Corrales G. [Prevention of medication errors in healthcare transition of patients treated with apomorphine]. Farm Hosp. 2014 May;38(3):227-30. PMID: 24951908. IF: N/A. http://www.ncbi.nlm.nih.gov/pubmed/24951908 +Pubmed +DOI