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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: bjoraker kj. 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.
Best practice recommendations for the management of anxiety during the pegvaliase journey.
Bjoraker KJ, Eggerding C, Ellenberg E, Hollander S, Holmes BM, Lindstrom K, McNutt M, Miller S, Northrup H, Rogers M, Rose S, Scott M, Shim S, Wardley B, Wessenberg L, Bilder DA. Bjoraker KJ, et al. Mol Genet Metab. 2024 Jan;141(1):107737. doi: 10.1016/j.ymgme.2023.107737. Epub 2023 Nov 22. Mol Genet Metab. 2024. PMID: 38043481 Free article.
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: bjoraker kj. 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.
Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase.
Hogan MJ, Stephens K, Smith E, Jalazo ER, Hendriksz CJ, Edwards LJ, Bjoraker KJ. Hogan MJ, et al. Among authors: bjoraker kj. Mol Genet Metab Rep. 2020 Oct 21;25:100669. doi: 10.1016/j.ymgmr.2020.100669. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33101985 Free PMC article.
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.
Kunin-Batson AS, Shapiro EG, Rudser KD, Lavery CA, Bjoraker KJ, Jones SA, Wynn RF, Vellodi A, Tolar J, Orchard PJ, Wraith JE. Kunin-Batson AS, et al. Among authors: bjoraker kj. JIMD Rep. 2016;29:95-102. doi: 10.1007/8904_2015_521. Epub 2016 Jan 30. JIMD Rep. 2016. PMID: 26825088 Free PMC article.
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.
Bjoraker KJ, Swanson MA, Coughlin CR 2nd, Christodoulou J, Tan ES, Fergeson M, Dyack S, Ahmad A, Friederich MW, Spector EB, Creadon-Swindell G, Hodge MA, Gaughan S, Burns C, Van Hove JL. Bjoraker KJ, et al. J Pediatr. 2016 Mar;170:234-9. doi: 10.1016/j.jpeds.2015.12.027. Epub 2016 Jan 1. J Pediatr. 2016. PMID: 26749113 Free article.
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL. Swanson MA, et al. Among authors: bjoraker kj. Ann Neurol. 2015 Oct;78(4):606-18. doi: 10.1002/ana.24485. Epub 2015 Aug 10. Ann Neurol. 2015. PMID: 26179960 Free PMC article.
Research challenges in central nervous system manifestations of inborn errors of metabolism.
Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC. Dickson PI, et al. Among authors: bjoraker kj. Mol Genet Metab. 2011 Mar;102(3):326-38. doi: 10.1016/j.ymgme.2010.11.164. Epub 2010 Dec 2. Mol Genet Metab. 2011. PMID: 21176882 Free PMC article. Review.
14 results