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Page 1
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Felzen A, van Wessel DBE, Gonzales E, Thompson RJ, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Calvo PL, Grabhorn E, Hartleif S, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Kerkar N, Jørgensen MH, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Ferreira CT, Guerrero FO, Wang H, Sency V, Kim KM, Chen HL, de Carvalho E, Fabre A, Bernabeu JQ, Zellos A, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Horslen S, Schwarz K, Bezerra JA, Wang K, Hansen BE, Verkade HJ; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium. Felzen A, et al. Among authors: de carvalho e. JHEP Rep. 2022 Nov 16;5(2):100626. doi: 10.1016/j.jhepr.2022.100626. eCollection 2023 Feb. JHEP Rep. 2022. PMID: 36687469 Free PMC article.
Pediatric Liver Transplantation: Caregivers' Quality of Life.
Bastos Tavares AP, Seixas LBPMG, Jayme CLW, Porta G, Seixas RBPM, de Carvalho E. Bastos Tavares AP, et al. Among authors: de carvalho e. Pediatr Gastroenterol Hepatol Nutr. 2022 Nov;25(6):489-499. doi: 10.5223/pghn.2022.25.6.489. Epub 2022 Nov 2. Pediatr Gastroenterol Hepatol Nutr. 2022. PMID: 36451695 Free PMC article.
Cystic Fibrosis: Clinical Phenotypes in Children and Adolescents.
Dos Santos ALM, de Melo Santos H, Nogueira MB, Távora HTO, de Lourdes Jaborandy Paim da Cunha M, de Melo Seixas RBP, de Freitas Velloso Monte L, de Carvalho E. Dos Santos ALM, et al. Among authors: de freitas velloso monte l, de melo santos h, de melo seixas rbp, de carvalho e, de lourdes jaborandy paim da cunha m. Pediatr Gastroenterol Hepatol Nutr. 2018 Oct;21(4):306-314. doi: 10.5223/pghn.2018.21.4.306. Epub 2018 Oct 10. Pediatr Gastroenterol Hepatol Nutr. 2018. PMID: 30345244 Free PMC article.
CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.
França TT, Barreiros LA, Salgado RC, Napoleão SMDS, Gomes LN, Ferreira JFS, Prando C, Weber CW, Di Gesu RSW, Montenegro C, Aranda CS, Kuntze G, Staines-Boone AT, Venegas-Montoya E, Becerra JCA, Bezrodnik L, Di Giovanni D, Moreira I, Seminario GA, Raccio ACG, Dorna MB, Rosário-Filho NA, Chong-Neto HJ, de Carvalho E, Grotta MB, Orellana JC, Dominguez MG, Porras O, Sasia L, Salvucci K, Garip E, Leite LFB, Forte WCN, Pinto-Mariz F, Goudouris E, Nuñez MEN, Schelotto M, Ruiz LB, Liberatore DI, Ochs HD, Cabral-Marques O, Condino-Neto A. França TT, et al. Among authors: de carvalho e. J Clin Immunol. 2022 Apr;42(3):514-526. doi: 10.1007/s10875-021-01182-5. Epub 2022 Jan 4. J Clin Immunol. 2022. PMID: 34982304
362 results