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Page 1
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: hadachi sm. Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67. Genet Med. 2011. PMID: 21325949 Free article.
Neonatal screening for severe combined immunodeficiency in Brazil.
Kanegae MP, Barreiros LA, Mazzucchelli JT, Hadachi SM, de Figueiredo Ferreira Guilhoto LM, Acquesta AL, Genov IR, Holanda SM, Di Gesu RS, Goulart AL, Dos Santos AM, Bellesi N, Costa-Carvalho BT, Condino-Neto A. Kanegae MP, et al. Among authors: hadachi sm. J Pediatr (Rio J). 2016 Jul-Aug;92(4):374-80. doi: 10.1016/j.jped.2015.10.006. Epub 2016 May 18. J Pediatr (Rio J). 2016. PMID: 27207231 Free article.
NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCIES USING TRECS AND KRECS: SECOND PILOT STUDY IN BRAZIL.
Kanegae MPP, Barreiros LA, Sousa JL, Brito MAS, Oliveira EB Junior, Soares LP, Mazzucchelli JTL, Fernandes DQ, Hadachi SM, Holanda SM, Guimarães FATM, Boacnin MAPVV, Pereira MAL, Bueno JMC, Grumach AS, Gesu RSWD, Santos AMND, Bellesi N, Costa-Carvalho BT, Condino-Neto A. Kanegae MPP, et al. Among authors: hadachi sm. Rev Paul Pediatr. 2017 Jan-Mar;35(1):25-32. doi: 10.1590/1984-0462/;2017;35;1;00013. Rev Paul Pediatr. 2017. PMID: 28977313 Free PMC article.
Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening.
Romanelli Tavares VL, Mendonça RH, Toledo MS, Hadachi SM, Grindler CM, Zanoteli E, Marques W Jr, Oliveira ASB, Breinis P, Morita MDPA, França MC Jr. Romanelli Tavares VL, et al. Among authors: hadachi sm. Genes (Basel). 2024 Jun 29;15(7):858. doi: 10.3390/genes15070858. Genes (Basel). 2024. PMID: 39062637 Free PMC article. Review.