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Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.
Kishnani PS, Kronn D, Suwazono S, Broomfield A, Llerena J, Al-Hassnan ZN, Batista JL, Wilson KM, Periquet M, Daba N, Hahn A, Chien YH. Kishnani PS, et al. Among authors: periquet m. Orphanet J Rare Dis. 2023 Dec 6;18(1):381. doi: 10.1186/s13023-023-02981-2. Orphanet J Rare Dis. 2023. PMID: 38057861 Free PMC article.
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites. Reuser AJJ, et al. Among authors: periquet m. Hum Mutat. 2019 Nov;40(11):2146-2164. doi: 10.1002/humu.23878. Epub 2019 Aug 7. Hum Mutat. 2019. PMID: 31342611 Free PMC article.
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC Jr, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R. Bevilacqua JA, et al. Among authors: periquet m. Orphanet J Rare Dis. 2020 Jan 13;15(1):11. doi: 10.1186/s13023-019-1291-2. Orphanet J Rare Dis. 2020. PMID: 31931849 Free PMC article.
Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.
Berger KI, Chien YH, Dubrovsky A, Kishnani PS, Llerena JC Jr, Neilan E, Roberts M, Sheng B, Batista JL, Periquet M, Wilson KM, van der Ploeg AT. Berger KI, et al. Among authors: periquet m. J Neurol. 2024 Aug;271(8):5433-5446. doi: 10.1007/s00415-024-12489-9. Epub 2024 Jun 19. J Neurol. 2024. PMID: 38896264 Free PMC article.
Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trials.
Mozaffar T, Riou França L, Msihid J, Shukla P, Proskorovsky I, Zhou T, Periquet M, An Haack K, Pollissard L, Straub V. Mozaffar T, et al. Among authors: periquet m. Mol Genet Metab Rep. 2024 Jun 26;40:101109. doi: 10.1016/j.ymgmr.2024.101109. eCollection 2024 Sep. Mol Genet Metab Rep. 2024. PMID: 39035044 Free PMC article.
Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials.
Díaz-Manera J, Hughes D, Erdem-Özdamar S, Tard C, Béhin A, Bouhour F, Davison J, Hahn SH, Haack KA, Huynh-Ba O, Periquet M, Tammireddy S, Thibault N, Zhou T, van der Ploeg AT. Díaz-Manera J, et al. Among authors: periquet m. Mol Genet Metab. 2024 Dec;143(4):108608. doi: 10.1016/j.ymgme.2024.108608. Epub 2024 Nov 8. Mol Genet Metab. 2024. PMID: 39566417 Free article.
Isolated vasculitis of the peripheral nervous system.
Collins MP, Periquet MI. Collins MP, et al. Among authors: periquet mi. Clin Exp Rheumatol. 2008 May-Jun;26(3 Suppl 49):S118-30. Clin Exp Rheumatol. 2008. PMID: 18799069 Review.
32 results