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Page 1
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. Among authors: potter nl. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article. Review.
Correlates of language impairment in children with galactosaemia.
Potter NL, Lazarus JA, Johnson JM, Steiner RD, Shriberg LD. Potter NL, et al. J Inherit Metab Dis. 2008 Aug;31(4):524-32. doi: 10.1007/s10545-008-0877-y. Epub 2008 Jul 12. J Inherit Metab Dis. 2008. PMID: 18649009 Free PMC article.
The adult galactosemic phenotype.
Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT. Waisbren SE, et al. Among authors: potter nl. J Inherit Metab Dis. 2012 Mar;35(2):279-86. doi: 10.1007/s10545-011-9372-y. Epub 2011 Jul 21. J Inherit Metab Dis. 2012. PMID: 21779791 Free PMC article.
Developmental Outcomes in Duarte Galactosemia.
Carlock G, Fischer ST, Lynch ME, Potter NL, Coles CD, Epstein MP, Mulle JG, Kable JA, Barrett CE, Edwards SM, Wilson E, Fridovich-Keil JL. Carlock G, et al. Among authors: potter nl. Pediatrics. 2019 Jan;143(1):e20182516. doi: 10.1542/peds.2018-2516. Pediatrics. 2019. PMID: 30593450
Hand fine motor control in classic galactosemia.
MacWilliams J, Patel S, Carlock G, Vest S, Potter NL, Fridovich-Keil JL. MacWilliams J, et al. Among authors: potter nl. J Inherit Metab Dis. 2021 Jul;44(4):871-878. doi: 10.1002/jimd.12376. Epub 2021 Mar 23. J Inherit Metab Dis. 2021. PMID: 33720431 Free PMC article.
Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia.
Peter B, Davis J, Finestack L, Stoel-Gammon C, VanDam M, Bruce L, Kim Y, Eng L, Cotter S, Landis E, Beames S, Scherer N, Knerr I, Williams D, Schrock C, Potter N. Peter B, et al. HGG Adv. 2022 May 20;3(3):100119. doi: 10.1016/j.xhgg.2022.100119. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35677809 Free PMC article.
Toward a paradigm shift from deficit-based to proactive speech and language treatment: Randomized pilot trial of the Babble Boot Camp in infants with classic galactosemia.
Peter B, Potter N, Davis J, Donenfeld-Peled I, Finestack L, Stoel-Gammon C, Lien K, Bruce L, Vose C, Eng L, Yokoyama H, Olds D, VanDam M. Peter B, et al. F1000Res. 2019 Mar 11;8:271. doi: 10.12688/f1000research.18062.5. eCollection 2019. F1000Res. 2019. PMID: 32566130 Free PMC article. Clinical Trial.
Toward Preventing Speech and Language Disorders of Known Genetic Origin: First Post-Intervention Results of Babble Boot Camp in Children With Classic Galactosemia.
Peter B, Davis J, Cotter S, Belter A, Williams E, Stumpf M, Bruce L, Eng L, Kim Y, Finestack L, Stoel-Gammon C, Williams D, Scherer N, VanDam M, Potter N. Peter B, et al. Am J Speech Lang Pathol. 2021 Nov 4;30(6):2616-2634. doi: 10.1044/2021_AJSLP-21-00098. Epub 2021 Oct 19. Am J Speech Lang Pathol. 2021. PMID: 34665663 Free PMC article. Clinical Trial.
30 results