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Pompe disease diagnosis and management guideline.
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Kishnani PS, et al. Among authors: byrne bj. Genet Med. 2006 May;8(5):267-88. doi: 10.1097/01.gim.0000218152.87434.f3. Genet Med. 2006. PMID: 16702877 Free PMC article. No abstract available.
Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start.
Stockton DW, Kishnani P, van der Ploeg A, Llerena J Jr, Boentert M, Roberts M, Byrne BJ, Araujo R, Maruti SS, Thibault N, Verhulst K, Berger KI. Stockton DW, et al. Among authors: byrne bj. J Neurol. 2020 Oct;267(10):3038-3053. doi: 10.1007/s00415-020-09936-8. Epub 2020 Jun 10. J Neurol. 2020. PMID: 32524257 Free PMC article.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Byrne BJ, Colan SD, Kishnani PS, Foster MC, Sparks SE, Gibson JB, An Haack K, Stockton DW, Peña LDM, Hahn SH, Johnson J, Tanpaiboon PX, Leslie ND, Kronn D, Hillman RE, Wang RY; Pompe ADVANCE Study Consortium. Byrne BJ, et al. Cardiol Young. 2022 Mar;32(3):364-373. doi: 10.1017/S1047951121002079. Epub 2021 Aug 23. Cardiol Young. 2022. PMID: 34420548 Clinical Trial.
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS; PROPEL Study Group. Schoser B, et al. Among authors: byrne bj. Lancet Neurol. 2021 Dec;20(12):1027-1037. doi: 10.1016/S1474-4422(21)00331-8. Lancet Neurol. 2021. PMID: 34800400 Clinical Trial.
Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).
Byrne BJ, Schoser B, Kishnani PS, Bratkovic D, Clemens PR, Goker-Alpan O, Ming X, Roberts M, Vorgerd M, Sivakumar K, van der Ploeg AT, Goldman M, Wright J, Holdbrook F, Jain V, Benjamin ER, Johnson F, Das SS, Wasfi Y, Mozaffar T. Byrne BJ, et al. J Neurol. 2024 Apr;271(4):1787-1801. doi: 10.1007/s00415-023-12096-0. Epub 2023 Dec 6. J Neurol. 2024. PMID: 38057636 Free PMC article. Clinical Trial.
Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.
Spencer CT, Byrne BJ, Gewitz MH, Wechsler SB, Kao AC, Gerstenfeld EP, Merliss AD, Carboni MP, Bryant RM. Spencer CT, et al. Among authors: byrne bj. Pediatr Cardiol. 2005 Sep-Oct;26(5):632-7. doi: 10.1007/s00246-005-0873-z. Pediatr Cardiol. 2005. PMID: 16235007 Free article.
Cardiac and clinical phenotype in Barth syndrome.
Spencer CT, Bryant RM, Day J, Gonzalez IL, Colan SD, Thompson WR, Berthy J, Redfearn SP, Byrne BJ. Spencer CT, et al. Among authors: byrne bj. Pediatrics. 2006 Aug;118(2):e337-46. doi: 10.1542/peds.2005-2667. Epub 2006 Jul 17. Pediatrics. 2006. PMID: 16847078
280 results