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1968 1
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Page 1
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Adang LA, et al. Among authors: gaviglio a. Cytotherapy. 2024 Jul;26(7):739-748. doi: 10.1016/j.jcyt.2024.03.487. Epub 2024 Apr 1. Cytotherapy. 2024. PMID: 38613540 Free PMC article. Review.
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. Genet Med. 2025. PMID: 40357684
A Newborn Screening Education Best Practices Framework: Development and Adoption.
Evans A, LeBlanc K, Bonhomme N, Shone SM, Gaviglio A, Freedenberg D, Penn J, Johnson C, Vogel B, Dolan SM, Goldenberg AJ. Evans A, et al. Among authors: gaviglio a. Int J Neonatal Screen. 2019 Jun 1;5(2):22. doi: 10.3390/ijns5020022. eCollection 2019 Jun. Int J Neonatal Screen. 2019. PMID: 33072981 Free PMC article. Review.
Newborn Screening-A Worldwide Endeavour to Protect.
Bonham JR, Webster D, Gaviglio A, Khan AH, Howell RR, Schielen PCJI. Bonham JR, et al. Among authors: gaviglio a. Int J Neonatal Screen. 2025 Sep 18;11(3):80. doi: 10.3390/ijns11030080. Int J Neonatal Screen. 2025. PMID: 40981310 Free PMC article.
53 results