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New mutations in the GLA gene in Brazilian families with Fabry disease.
Turaça LT, Pessoa JG, Motta FL, Muñoz Rojas MV, Müller KB, Lourenço CM, Junior Marques W, D'Almeida V, Martins AM, Pesquero JB. Turaça LT, et al. Among authors: pesquero jb. J Hum Genet. 2012 Jun;57(6):347-51. doi: 10.1038/jhg.2012.32. Epub 2012 May 3. J Hum Genet. 2012. PMID: 22551898
Novel GAA mutations in patients with Pompe disease.
Turaça LT, de Faria DO, Kyosen SO, Teixeira VD, Motta FL, Pessoa JG, Rodrigues E Silva M, de Almeida SS, D'Almeida V, Munoz Rojas MV, Martins AM, Pesquero JB. Turaça LT, et al. Among authors: pesquero jb. Gene. 2015 Apr 25;561(1):124-31. doi: 10.1016/j.gene.2015.02.023. Epub 2015 Feb 12. Gene. 2015. PMID: 25681614
Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families.
Veronez CL, Moreno AS, Constantino-Silva RN, Maia LSM, Ferriani MPL, Castro FFM, Valle SR, Nakamura VK, Cagini N, Gonçalves RF, Mansour E, Serpa FS, Coelho Dias GA, Piccirillo MA, Toledo E, de Souza Bernardes M, Cichon S, Stieber C, Arruda LK, Pesquero JB, Grumach AS. Veronez CL, et al. Among authors: pesquero jb. J Allergy Clin Immunol Pract. 2018 Jul-Aug;6(4):1209-1216.e8. doi: 10.1016/j.jaip.2017.09.025. Epub 2017 Nov 8. J Allergy Clin Immunol Pract. 2018. PMID: 29128335
Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis.
Giavina-Bianchi P, Arruda LK, Aun MV, Campos RA, Chong-Neto HJ, Constantino-Silva RN, Fernandes FR, Ferraro MF, Ferriani MPL, França AT, Fusaro G, Garcia JFB, Komninakis S, Maia LSM, Mansour E, Moreno AS, Motta AA, Pesquero JB, Portilho N, Rosário NA, Serpa FS, Solé D, Takejima P, Toledo E, Valle SO, Veronez CL, Grumach AS. Giavina-Bianchi P, et al. Among authors: pesquero jb. Clinics (Sao Paulo). 2018;73:e310. doi: 10.6061/clinics/2018/e310. Epub 2018 May 3. Clinics (Sao Paulo). 2018. PMID: 29723342 Free PMC article.
316 results