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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. 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.
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, Liao HC, Kubaski F, Giugliani R, Fuller M, Gelb MH. Herbst ZM, et al. Among authors: gelb mh. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107632. doi: 10.1016/j.ymgme.2023.107632. Epub 2023 Jun 24. Mol Genet Metab. 2023. PMID: 37407323
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: gelb mh. 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
ScreenPlus: A comprehensive, multi-disorder newborn screening program.
Kelly NR, Orsini JJ, Goldenberg AJ, Mulrooney NS, Boychuk NA, Clarke MJ, Paleologos K, Martin MM, McNeight H, Caggana M, Bailey SM, Eiland LR, Ganesh J, Kupchik G, Lumba R, Nafday S, Stroustrup A, Gelb MH, Wasserstein MP. Kelly NR, et al. Among authors: gelb mh. Mol Genet Metab Rep. 2023 Dec 14;38:101037. doi: 10.1016/j.ymgmr.2023.101037. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38173711 Free PMC article.
442 results