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Page 1
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1.
van Vliet K, Dijkstra AM, Bouva MJ, van der Krogt J, Bijsterveld K, van der Sluijs F, de Sain-van der Velden MG, Koop K, Rossi A, Thomas JA, Patera CA, Kiewiet MBG, Waters PJ, Cyr D; Québec NTBC Study Group; Boelen A, van Spronsen FJ, Heiner-Fokkema MR. van Vliet K, et al. Among authors: waters pj. J Inherit Metab Dis. 2023 Nov;46(6):1104-1113. doi: 10.1002/jimd.12669. Epub 2023 Aug 10. J Inherit Metab Dis. 2023. PMID: 37545091
Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial.
Pekeles H, Berrahmoune S, Dassi C, Cheung ACT, Gagnon T, Waters PJ, Eberhard R, Buhas D, Myers KA. Pekeles H, et al. Among authors: waters pj. EClinicalMedicine. 2024 Jul 18;74:102740. doi: 10.1016/j.eclinm.2024.102740. eCollection 2024 Aug. EClinicalMedicine. 2024. PMID: 39091670 Free PMC article.
Timing of MOG-IgG Testing Is Key to 2023 MOGAD Diagnostic Criteria.
Forcadela M, Rocchi C, San Martin D, Gibbons EL, Wells D, Woodhall MR, Waters PJ, Huda S, Hamid S. Forcadela M, et al. Among authors: waters pj. Neurol Neuroimmunol Neuroinflamm. 2023 Nov 17;11(1):e200183. doi: 10.1212/NXI.0000000000200183. Print 2024 Jan. Neurol Neuroimmunol Neuroinflamm. 2023. PMID: 37977848 Free PMC article.
Factors Associated With Relapse and Treatment of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease in the United Kingdom.
Satukijchai C, Mariano R, Messina S, Sa M, Woodhall MR, Robertson NP, Ming L, Wassmer E, Kneen R, Huda S, Jacob A, Blain C, Halfpenny C, Hemingway C, O'Sullivan E, Hobart J, Fisniku LK, Martin R, Dopson R, Cooper SA, Williams V, Waters PJ, Ramdas S, Leite MI, Palace J. Satukijchai C, et al. Among authors: waters pj. JAMA Netw Open. 2022 Jan 4;5(1):e2142780. doi: 10.1001/jamanetworkopen.2021.42780. JAMA Netw Open. 2022. PMID: 35006246 Free PMC article.
92 results