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Page 1
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD); Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M. Keller R, et al. Among authors: juan fita mj. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. J Inherit Metab Dis. 2019. PMID: 30740731 Free article.
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra… See abstract for full author list ➔ McHugh D, et al. Among authors: juan fita mj. Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67. Genet Med. 2011. PMID: 21325949 Free article.
[Reply].
Egea-Mellado JM, Juan-Fita MJ, González-Gallego I, Fernández-Sánchez A. Egea-Mellado JM, et al. Among authors: juan fita mj. Med Clin (Barc). 2013 Sep 21;141(6):272-3. doi: 10.1016/j.medcli.2013.02.026. Epub 2013 May 10. Med Clin (Barc). 2013. PMID: 23669896 Spanish. No abstract available.
A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain).
Sánchez-Villalobos M, Campos Baños E, Juan Fita MJ, Egea Mellado JM, Gonzalez Gallego I, Beltrán Videla A, Berenguer Piqueras M, Bermúdez Cortés M, Moraleda Jiménez JM, Guillen Navarro E, Salido Fierrez E, Pérez-Oliva AB. Sánchez-Villalobos M, et al. Among authors: juan fita mj. Int J Neonatal Screen. 2023 Oct 10;9(4):55. doi: 10.3390/ijns9040055. Int J Neonatal Screen. 2023. PMID: 37873846 Free PMC article.
CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing.
Moya-Quiles MR, Mondéjar-López P, Pastor-Vivero MD, González-Gallego I, Juan-Fita MJ, Egea-Mellado JM, Carbonell P, Casals T, Fernández-Sánchez A, Sánchez-Solís M, Glover G. Moya-Quiles MR, et al. Among authors: juan fita mj. Clin Genet. 2009 Dec;76(6):577-9. doi: 10.1111/j.1399-0004.2009.01252.x. Epub 2009 Oct 21. Clin Genet. 2009. PMID: 19845690 No abstract available.
PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM. Régal L, et al. Among authors: juan fita mj. Genet Med. 2018 Jan;20(1):109-118. doi: 10.1038/gim.2017.74. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726805 Free article.
Real-world prostate-specific antigen reduction and survival outcomes of metastatic hormone-sensitive prostate cancer patients treated with apalutamide: An observational, retrospective, and multicentre study.
López-Abad A, Ramírez Backhaus M, Server Gómez G, Cao Avellaneda E, Moreno Alarcón C, López Cubillana P, Yago Giménez P, de Pablos Rodríguez P, Juan Fita MJ, Climent Durán MÁ, Guardiola Ruiz I, Vidal Crespo N, Artés Artés M, Montoya Chinchilla R, Moreno Avilés J, Guzmán Martínez-Valls PL, López González PÁ. López-Abad A, et al. Among authors: juan fita mj. Prostate Int. 2024 Mar;12(1):20-26. doi: 10.1016/j.prnil.2023.10.003. Epub 2023 Nov 2. Prostate Int. 2024. PMID: 38523897 Free PMC article.
Enfortumab Vedotin and Pembrolizumab in Untreated Advanced Urothelial Cancer.
Powles T, Valderrama BP, Gupta S, Bedke J, Kikuchi E, Hoffman-Censits J, Iyer G, Vulsteke C, Park SH, Shin SJ, Castellano D, Fornarini G, Li JR, Gümüş M, Mar N, Loriot Y, Fléchon A, Duran I, Drakaki A, Narayanan S, Yu X, Gorla S, Homet Moreno B, van der Heijden MS; EV-302 Trial Investigators. Powles T, et al. N Engl J Med. 2024 Mar 7;390(10):875-888. doi: 10.1056/NEJMoa2312117. N Engl J Med. 2024. PMID: 38446675 Clinical Trial.
33 results