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Page 1
Rubinstein-Taybi syndrome in diverse populations.
Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P. Tekendo-Ngongang C, et al. Among authors: saborio rocafort m. Am J Med Genet A. 2020 Dec;182(12):2939-2950. doi: 10.1002/ajmg.a.61888. Epub 2020 Sep 27. Am J Med Genet A. 2020. PMID: 32985117
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.
Penon-Portmann M, Lotz-Esquivel S, Chavez Carrera A, Jiménez-Hernández M, Alvarado-Romero D, Segura-Cordero S, Rimolo-Donadio F, Hevia-Urrutia F, Mora-Guevara A, Saborío-Rocafort M, Jiménez-Arguedas G, Badilla-Porras R. Penon-Portmann M, et al. Among authors: saborio rocafort m. JIMD Rep. 2020 Feb 6;52(1):55-62. doi: 10.1002/jmd2.12098. eCollection 2020 Mar. JIMD Rep. 2020. PMID: 32154060 Free PMC article.
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.
Penon-Portmann M, Westbury SK, Li L, Pluthero FG, Liu RJY, Yao HHY, Geng RSQ, Warner N, Muise AM, Lotz-Esquivel S, Howell-Ramirez M, Saborío-Chacon P, Fernández-Rojas S, Saborio-Rocafort M, Jiménez-Hernández M, Wang-Zuniga C, Cartín-Sánchez W, Shieh JT, Badilla-Porras R, Kahr WHA. Penon-Portmann M, et al. Among authors: saborio rocafort m. J Thromb Haemost. 2022 Jul;20(7):1712-1719. doi: 10.1111/jth.15711. Epub 2022 Apr 12. J Thromb Haemost. 2022. PMID: 35325493 Free article.
[ALFA-1 antitrypsin deficiency, a commonly missed cause of chronic liver disease in theadult: presentation of 9 cases with review of current literature].
Ramírez-Quesada W, Hevia-Urrutia F, Rojas-Alvarado M, Brenes-Pino F, Alfaro-Alcocer E, Sauma-Rodríguez J, Saborío-Rocafort M, Jiménez-Hernández M, Camacho-Matamoros N, Alvarado-Romero D. Ramírez-Quesada W, et al. Among authors: saborio rocafort m. Rev Gastroenterol Peru. 2019 Apr-Jun;39(2):127-131. Rev Gastroenterol Peru. 2019. PMID: 31333228 Review. Spanish.
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.
Poloni S, Dos Santos BB, Chiesa A, Specola N, Pereyra M, Saborío-Rocafort M, Salazar MF, Leal-Witt MJ, Castro G, Peñaloza F, Wong SP, Porras RB, Paranza LO, Sanabria MC, Amieva MV, Morales M, Naranjo ARC, Mahfoud A, Colmenares AR, Lemes A, Sotillo-Lindo JF, Perez C, Rey LM, Torriente GMZ, Refosco LF, Schwartz IVD, Cornejo V. Poloni S, et al. Among authors: saborio rocafort m. Nutrients. 2021 Jul 27;13(8):2566. doi: 10.3390/nu13082566. Nutrients. 2021. PMID: 34444728 Free PMC article.