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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.
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.
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.
29 results