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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM. Mayorandan S, et al. Among authors: cocho de juan ja. Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7. Orphanet J Rare Dis. 2014. PMID: 25081276 Free PMC article.
[Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.].
Sánchez Pintos P, Cocho de Juan JÁ, Bóveda Fontán MD, Castiñeiras Ramos DE, Colón Mejeras C, Iglesias Rodríguez AJ, de Castro López MJ, Alonso Fernández JR, Fraga Bermúdez JM, Couce Pico ML. Sánchez Pintos P, et al. Among authors: cocho de juan ja. Rev Esp Salud Publica. 2020 Dec 16;94:e202012161. Rev Esp Salud Publica. 2020. PMID: 33323918 Free article. Spanish.
[Beginnings, evolution and current situation of the Newborn Screening Programs in Spain.].
Marín Soria JL, González de Aledo Castillo JM, Argudo Ramírez A, López Galera RM, Pajares García S, Ribes Rubió A, García Villoria J, Yahyaoui Macías R, Álvarez Ríos AI, Melguizo Madrid E, González Irazabal Y, Hernández de Abajo G, Prieto García B, Cardo González L, Martínez Morillo E, Robles Bauza J, Bauçà Rosselló JM, Pérez Esteban G, Díaz-Flores Estevez F, Pérez Mangas E, Cañadas Garzó V, Muñoz Boyero AC, Redondo Cardeña PA, Bueno Llarena MJ, Sánchez Alarcon J, Castiñeiras Ramos D, Cocho de Juan JÁ, Colón Mejeras C, Blanco Soto P, Cambra Conejero A, Fernández Ruano ML, Ortiz Temprado A, Egea Mellado JM, González Gallego I, Juan Fita MJ, Espada Saenz-Torre M, Rausell Felix D, Marcos Tomás JV, Ruiz Aja S, Delgado Pecellín C, Bóveda Fontán MD. Marín Soria JL, et al. Among authors: cocho de juan ja. Rev Esp Salud Publica. 2021 Feb 23;95:e202102041. Rev Esp Salud Publica. 2021. PMID: 33619242 Free article. Spanish.
Enhanced interpretation of newborn screening results without analyte cutoff values.
Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H,… See abstract for full author list ➔ Marquardt G, et al. Among authors: cocho de juan ja. Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16. Genet Med. 2012. PMID: 22766634 Free article.
14 results