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Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.
Gelb MH, Basheeruddin K, Burlina A, Chen HJ, Chien YH, Dizikes G, Dorley C, Giugliani R, Hietala A, Hong X, Kao SM, Khaledi H, Klug T, Kubaski F, Liao HC, Martin M, Manning A, Orsini J, Peng Y, Ranieri E, Rohrwasser A, Szabo-Fresnais N, Turgeon CT, Vaz FM, Wang LY, Matern D. Gelb MH, et al. Among authors: ranieri e. Int J Neonatal Screen. 2022 Nov 28;8(4):62. doi: 10.3390/ijns8040062. Int J Neonatal Screen. 2022. PMID: 36547379 Free PMC article. Review.
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: ranieri e. Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67. Genet Med. 2011. PMID: 21325949 Free article.
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.
Kubaski F, Sousa I, Amorim T, Pereira D, Trometer J, Souza A, Ranieri E, Polo G, Burlina A, Brusius-Facchin AC, Netto ABO, Tomatsu S, Giugliani R. Kubaski F, et al. Among authors: ranieri e. Int J Neonatal Screen. 2020 Nov 13;6(4):90. doi: 10.3390/ijns6040090. Int J Neonatal Screen. 2020. PMID: 33203019 Free PMC article. Review.
Pilot study of newborn screening for six lysosomal diseases in Brazil.
Kubaski F, Sousa I, Amorim T, Pereira D, Silva C, Chaves V, Brusius-Facchin AC, Netto ABO, Soares J, Vairo F, Poletto E, Trometer J, Souza A, Ranieri E, Polo G, Hong X, Herbst ZM, Burlina A, Gelb MH, Giugliani R. Kubaski F, et al. Among authors: ranieri e. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107654. doi: 10.1016/j.ymgme.2023.107654. Epub 2023 Jul 13. Mol Genet Metab. 2023. PMID: 37507255
Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program.
Lim JS, Tan ES, John CM, Poh S, Yeo SJ, Ang JS, Adakalaisamy P, Rozalli RA, Hart C, Tan ET, Ranieri E, Rajadurai VS, Cleary MA, Goh DL. Lim JS, et al. Among authors: ranieri e. Mol Genet Metab. 2014 Sep-Oct;113(1-2):53-61. doi: 10.1016/j.ymgme.2014.07.018. Epub 2014 Jul 23. Mol Genet Metab. 2014. PMID: 25102806
Newborn screening for lysosomal storage disorders.
Meikle PJ, Ranieri E, Ravenscroft EM, Hua CT, Brooks DA, Hopwood JJ. Meikle PJ, et al. Among authors: ranieri e. Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:104-10. Southeast Asian J Trop Med Public Health. 1999. PMID: 11400743
281 results