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Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.
Burton BK, Hermida Á, Bélanger-Quintana A, Bell H, Bjoraker KJ, Christ SE, Grant ML, Harding CO, Huijbregts SCJ, Longo N, McNutt MC 2nd, Nguyen-Driver MD, Santos Pessoa AL, Rocha JC, Sacharow S, Sanchez-Valle A, Sivri HS, Vockley J, Walterfang M, Whittle S, Muntau AC. Burton BK, et al. Among authors: grant ml. Mol Genet Metab. 2022 Sep-Oct;137(1-2):114-126. doi: 10.1016/j.ymgme.2022.07.012. Epub 2022 Jul 29. Mol Genet Metab. 2022. PMID: 36027720 Free article.
A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria.
Burton B, Grant M, Feigenbaum A, Singh R, Hendren R, Siriwardena K, Phillips J 3rd, Sanchez-Valle A, Waisbren S, Gillis J, Prasad S, Merilainen M, Lang W, Zhang C, Yu S, Stahl S. Burton B, et al. Mol Genet Metab. 2015 Mar;114(3):415-24. doi: 10.1016/j.ymgme.2014.11.011. Epub 2014 Nov 26. Mol Genet Metab. 2015. PMID: 25533024 Free article. Clinical Trial.
Neurocognitive assessment platform for clinical trials in PKU: White paper developed by the NPKUA neurocognitive workgroup.
Waisbren SE, Christ SE, Bilder DA, Bjoraker KJ, Bolton S, Chamberlin S, Grant ML, Janzen DM, Katz R, Lubliner E, Martin A, McQueen K, Moshkovich O, Nguyen-Driver M, Shim S, Stefanatos AK, Wilkening G, Harding C. Waisbren SE, et al. Among authors: grant ml. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108555. doi: 10.1016/j.ymgme.2024.108555. Epub 2024 Jul 25. Mol Genet Metab. 2024. PMID: 39089209 No abstract available.
Newborn screening 50 years later: access issues faced by adults with PKU.
Berry SA, Brown C, Grant M, Greene CL, Jurecki E, Koch J, Moseley K, Suter R, van Calcar SC, Wiles J, Cederbaum S. Berry SA, et al. Genet Med. 2013 Aug;15(8):591-9. doi: 10.1038/gim.2013.10. Epub 2013 Mar 7. Genet Med. 2013. PMID: 23470838 Free PMC article. Review.
58 results