المؤلفون: McHugh, DMS, Cameron, CA, Abdenur, JE, Abdulrahman, M, Adair, O, Al Nuaimi, SA, Ahlman, 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, Cariappa, R, Carlisle, C, Caruso, U, Cassanello, M, Castilla, AM, Ramos, DEC, Chakraborty, P, Chandrasekar, R, Ramos, AC, Cheillan, D, Chien, YH, Childs, TA, Chrastina, P, Sica, YC, de Juan, JAC, Colandre, ME, Espinoza, VC, Corso, G, Currier, R, Cyr, D, Czuczy, N, D'Apolito, O, Davis, T, de Sain-Van der Velden, MG, Pecellin, CD, 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, LRC, Bermejo, MSGV, Gavrilov, D, Gerace, R, Giordano, G, Irazabal, YG, Greed, LC, Grier, R, Grycki, E, Gu, XF, Gulamali-Majid, F, Hagar, AF, Han, LS, Hannon, WH, Haslip, C, Hassan, FA, He, MA, Hietala, A, Himstedt, L, Hoffman, GL, Hoffman, W, Hoggatt, P, Hopkins, PV, Hougaard, DM, Hughes, K, Hunt, PR, Hwu, WL, Hynes, J, Ibarra-Gonzalez, I, Ingham, CA, Ivanova, M, Jacox, WB, John, C, Johnson, JP, Jonsson, JJ, Karg, E, Kasper, D, Klopper, B, Katakouzinos, D, Khneisser, I, Knoll, D, Kobayashi, H, Koneski, R, Kozich, V, Kouapei, R, Kohlmueller, D, Kremensky, I, la Marca, G, Lavochkin, M, Lee, SY, Lehotay, DC, Lemes, A, Lepage, J, Lesko, B, Lewis, B, Lim, C, Linard, S, Lindner, M, Lloyd-Puryear, MA, Lorey, F, Loukas, YL, Luedtke, J, Maffitt, N, Magee, JF, Manning, A, Manos, S, Marie, S, Hadachi, SM, Marquardt, G, Martin, SJ, Matern, D, Gibson, SKM, Mayne, P, McCallister, TD, McCann, M, McClure, J, McGill, JJ, McKeever, CD, McNeilly, B, Morrissey, MA, Moutsatsou, P, Mulcahy, EA, Nikoloudis, D, Norgaard-Pedersen, B, Oglesbee, D, Oltarzewski, M, Ombrone, D, Ojodu, J, Papakonstantinou, V, Reoyo, SP, Park, HD, Pasquali, M, Pasquini, E, Patel, P, Pass, KA, Peterson, C, Pettersen, RD, Pitt, JJ, Poh, S, Pollak, A, Porter, C, Poston, PA, Price, RW, Queijo, C, Quesada, J, Randell, E, Ranieri, E, Raymond, K, Reddic, JE, Reuben, A, Ricciardi, C, Rinaldo, P, Rivera, JD, Roberts, A, Rocha, H, Roche, G, Greenberg, CR, Mellado, JME, Juan-Fita, MJ, Ruiz, C, Ruoppolo, M, Rutledge, SL, Ryu, EJ, Saban, C, Sahai, I, Garcia-Blanco, MIS, Santiago-Borrero, P, Schenone, A, Schoos, R, Schweitzer, B, Scott, P, Seashore, MR, Seeterlin, MA, Sesser, DE, Sevier, DW, Shone, SM, Sinclair, G, Skrinska, VA, Stanley, EL, Strovel, ET, Jones, ALS, Sunny, S, Takats, Z, Tanyalcin, T, Teofoli, F, Thompson, JR, Tomashitis, K, Domingos, MT, Torres, J, Torres, R, Tortorelli, S, Turi, S, Turner, K, Tzanakos, N, Valiente, AG, Vallance, H, Vela-Amieva, M, Vilarinho, L, von Dobeln, U, Vincent, MF, Vorster, BC, Watson, MS, Webster, D, Weiss, S, Wilcken, B, Wiley, V, Williams, SK, Willis, SA, Woontner, M, Wright, K, Yahyaoui, R, Yamaguchi, S, Yssel, M, Zakowicz, WM

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 13(3):230-254

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:122005782

المؤلفون: Pelaez JM; Fundação Ecumênica de Proteção ao Excepcional (FEPE), Curitiba, PR, Brazil., Rojas-Ramos JCR; Fundação Ecumênica de Proteção ao Excepcional (FEPE), Curitiba, PR, Brazil; Unidade de Endocrinologia Pediátrica (UEP), Complexo Hospital de Clínicas da Universidade Federal do Paraná (CHC - UFPR), Curitiba, PR, Brazil., Domingos MT; Fundação Ecumênica de Proteção ao Excepcional (FEPE), Curitiba, PR, Brazil., de Lima MR; Fundação Ecumênica de Proteção ao Excepcional (FEPE), Curitiba, PR, Brazil., Kraemer GC; Fundação Ecumênica de Proteção ao Excepcional (FEPE), Curitiba, PR, Brazil; Unidade de Endocrinologia Pediátrica (UEP), Complexo Hospital de Clínicas da Universidade Federal do Paraná (CHC - UFPR), Curitiba, PR, Brazil., Cardoso-Demartini AA; Unidade de Endocrinologia Pediátrica (UEP), Complexo Hospital de Clínicas da Universidade Federal do Paraná (CHC - UFPR), Curitiba, PR, Brazil., Pereira RM; Unidade de Endocrinologia Pediátrica (UEP), Complexo Hospital de Clínicas da Universidade Federal do Paraná (CHC - UFPR), Curitiba, PR, Brazil., de Lacerda L; Unidade de Endocrinologia Pediátrica (UEP), Complexo Hospital de Clínicas da Universidade Federal do Paraná (CHC - UFPR), Curitiba, PR, Brazil., Nesi-França S; Unidade de Endocrinologia Pediátrica (UEP), Complexo Hospital de Clínicas da Universidade Federal do Paraná (CHC - UFPR), Curitiba, PR, Brazil. Electronic address: snesi@ufpr.br.

المصدر: Jornal de pediatria [J Pediatr (Rio J)] 2023 Sep-Oct; Vol. 99 (5), pp. 478-484. Date of Electronic Publication: 2023 Apr 20.

نوع المنشور: Observational Study; Journal Article

بيانات الدورية: Publisher: Elsevier Editora Ltda Country of Publication: Brazil NLM ID: 2985188R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1678-4782 (Electronic) Linking ISSN: 00217557 NLM ISO Abbreviation: J Pediatr (Rio J) Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Hypothyroidism*/diagnosis, Infant, Newborn ; Humans ; Child ; Child, Preschool ; Retrospective Studies ; Longitudinal Studies ; Neonatal Screening ; Intelligence ; Wechsler Scales ; Cognition

المؤلفون: Domingos MT; Serviço de Referência em Triagem Neonatal (SRTN), Fundação Ecumênica de Proteção ao Excepcional (FEPE), Curitiba, PR, Brazil. Electronic address: mussetd@hotmail.com., Magdalena NI; Department of Pediatrics, Universidade Federal do Paraná (UFPR), Curitiba, PR, Brazil., Cat MN; Department of Pediatrics, Universidade Federal do Paraná (UFPR), Curitiba, PR, Brazil., Watanabe AM; Serviço de Referência em Triagem Neonatal (SRTN), Fundação Ecumênica de Proteção ao Excepcional (FEPE), Curitiba, PR, Brazil., Rosário Filho NA; Department of Pediatrics, Universidade Federal do Paraná (UFPR), Curitiba, PR, Brazil.

المصدر: Jornal de pediatria [J Pediatr (Rio J)] 2015 Nov-Dec; Vol. 91 (6), pp. 590-5. Date of Electronic Publication: 2015 Jun 16.

نوع المنشور: Comparative Study; Journal Article

بيانات الدورية: Publisher: Elsevier Editora Ltda Country of Publication: Brazil NLM ID: 2985188R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1678-4782 (Electronic) Linking ISSN: 00217557 NLM ISO Abbreviation: J Pediatr (Rio J) Subsets: MEDLINE

مواضيع طبية MeSH: Chlorides/*analysis , Cystic Fibrosis/*diagnosis , Sweat/*chemistry, Cross-Sectional Studies ; Electric Conductivity ; Female ; Humans ; Infant, Newborn ; Male ; Neonatal Screening ; Prospective Studies ; Sensitivity and Specificity

المؤلفون: Marquardt G; Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA., 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, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castiñeiras Ramos DE, Cocho de Juan JA, Rueda Fernández I, Yahyaoui Macías R, Egea-Mellado JM, González-Gallego I, Delgado Pecellin C, García-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2012 Jul; Vol. 14 (7), pp. 648-55. Date of Electronic Publication: 2012 Feb 16.

نوع المنشور: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Software*, Neonatal Screening/*methods , Tandem Mass Spectrometry/*methods, Computational Biology ; Data Interpretation, Statistical ; Databases, Factual ; Diagnosis, Differential ; False Positive Reactions ; Humans ; Infant, Newborn ; International Cooperation ; Metabolome ; Minnesota ; Multivariate Analysis ; Pattern Recognition, Automated ; Predictive Value of Tests ; Retrospective Studies

عنوان ترانسليتريتد: Triagem neonatal do hipotireoidismo congênito: novas conquistas... novos desafios...

المؤلفون: França SN, Domingos MT

المصدر: Arquivos brasileiros de endocrinologia e metabologia [Arq Bras Endocrinol Metabol] 2008 Jun; Vol. 52 (4), pp. 579-80.

نوع المنشور: Comment; Editorial

بيانات الدورية: Publisher: Sociedade Brasileira de Endocrinologia e Metabologia Country of Publication: Brazil NLM ID: 0403437 Publication Model: Print Cited Medium: Internet ISSN: 1677-9487 (Electronic) Linking ISSN: 00042730 NLM ISO Abbreviation: Arq Bras Endocrinol Metabol Subsets: MEDLINE

مواضيع طبية MeSH: Neonatal Screening*, Congenital Hypothyroidism/*diagnosis, Humans ; Infant, Newborn

عنوان ترانسليتريتد: Prevalência da hemoglobina S no Estado do Paraná, Brasil, obtida pela triagem neonatal.

المؤلفون: Watanabe AM; Fundação Ecumênica de Proteção ao Excepcional, Avenida Prefeito Lothário Meissner 836, Curitiba, Brazil. amw@onda.com.br, Pianovski MA, Zanis Neto J, Lichtvan LC, Chautard-Freire-Maia EA, Domingos MT, Wittig EO

المصدر: Cadernos de saude publica [Cad Saude Publica] 2008 May; Vol. 24 (5), pp. 993-1000.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Escola Nacional De Saúde Pública, Fundação Oswaldo Cruz Country of Publication: Brazil NLM ID: 8901573 Publication Model: Print Cited Medium: Print ISSN: 0102-311X (Print) Linking ISSN: 0102311X NLM ISO Abbreviation: Cad Saude Publica Subsets: MEDLINE

مواضيع طبية MeSH: Anemia, Sickle Cell/*epidemiology, Anemia, Sickle Cell/blood ; Anemia, Sickle Cell/ethnology ; Brazil/epidemiology ; Cross-Sectional Studies ; Heterozygote ; Homozygote ; Humans ; Infant, Newborn ; Neonatal Screening/methods ; Prevalence ; Retrospective Studies ; White People/statistics & numerical data ; beta-Thalassemia/blood ; beta-Thalassemia/epidemiology ; beta-Thalassemia/ethnology

عنوان ترانسليتريتد: Programa de triagem neonatal para fibrose cística no estado do Paraná: avaliação após 30 meses de sua implantação.

المؤلفون: Santos GP; Universidade Federal do Paraná, Curitiba, PR. gpchermi@bol.com.br, Domingos MT, Wittig EO, Riedi CA, Rosário NA

المصدر: Jornal de pediatria [J Pediatr (Rio J)] 2005 May-Jun; Vol. 81 (3), pp. 240-4.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Elsevier Editora Ltda Country of Publication: Brazil NLM ID: 2985188R Publication Model: Print Cited Medium: Print ISSN: 0021-7557 (Print) Linking ISSN: 00217557 NLM ISO Abbreviation: J Pediatr (Rio J) Subsets: MEDLINE

مواضيع طبية MeSH: Cystic Fibrosis/*diagnosis , Neonatal Screening/*methods , Trypsin/*blood, Biomarkers/analysis ; Brazil/epidemiology ; Cystic Fibrosis/epidemiology ; Female ; Fluoroimmunoassay ; Humans ; Incidence ; Infant, Newborn ; Male ; National Health Programs ; Neonatal Screening/standards ; Program Evaluation ; Sodium Chloride/analysis ; Sweat/chemistry