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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: munoz bartolo g. 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.
Recurrence of bile salt export pump deficiency after liver transplantation.
Jara P, Hierro L, Martínez-Fernández P, Alvarez-Doforno R, Yánez F, Diaz MC, Camarena C, De la Vega A, Frauca E, Muñoz-Bartolo G, López-Santamaría M, Larrauri J, Alvarez L. Jara P, et al. Among authors: munoz bartolo g. N Engl J Med. 2009 Oct 1;361(14):1359-67. doi: 10.1056/NEJMoa0901075. N Engl J Med. 2009. PMID: 19797282 Free article.
Heterozygous ABCB4 mutations in children with cholestatic liver disease.
Gordo-Gilart R, Hierro L, Andueza S, Muñoz-Bartolo G, López C, Díaz C, Jara P, Álvarez L. Gordo-Gilart R, et al. Among authors: munoz bartolo g. Liver Int. 2016 Feb;36(2):258-67. doi: 10.1111/liv.12910. Epub 2015 Aug 3. Liver Int. 2016. PMID: 26153658
Genotype correlates with the natural history of severe bile salt export pump deficiency.
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly DA, Nebbia G, Arnell H, Björn Fischler, 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, Sturm E, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Onal Z, Bunt TMG, Hansen BE, Verkade HJ; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium. van Wessel DBE, et al. Among authors: munoz bartolo g. J Hepatol. 2020 Jul;73(1):84-93. doi: 10.1016/j.jhep.2020.02.007. Epub 2020 Feb 20. J Hepatol. 2020. PMID: 32087350
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz Ö, Kerkar N, Hørby Jørgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ; Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium. van Wessel DBE, et al. Among authors: munoz bartolo g. Hepatology. 2021 Aug;74(2):892-906. doi: 10.1002/hep.31787. Epub 2021 Jul 13. Hepatology. 2021. PMID: 33666275 Free PMC article.
Urea cycle disorders and indications for liver transplantation.
García Vega M, Andrade JD, Morais A, Frauca E, Muñoz Bartolo G, Lledín MD, Bergua A, Hierro L. García Vega M, et al. Among authors: munoz bartolo g. Front Pediatr. 2023 Mar 3;11:1103757. doi: 10.3389/fped.2023.1103757. eCollection 2023. Front Pediatr. 2023. PMID: 36937980 Free PMC article.
Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.
Molera C, Sarishvili T, Nascimento A, Rtskhiladze I, Muñoz Bartolo G, Fernández Cebrián S, Valverde Fernández J, Muñoz Cabello B, Graham RJ, Miller W, Sepulveda B, Kamath BM, Meng H, Lawlor MW. Molera C, et al. Among authors: munoz bartolo g. J Neuromuscul Dis. 2022;9(1):73-82. doi: 10.3233/JND-210712. J Neuromuscul Dis. 2022. PMID: 34366366 Free PMC article.
Current Practices on Diagnosis, Prevention and Treatment of Post-Transplant Lymphoproliferative Disorder in Pediatric Patients after Solid Organ Transplantation: Results of ERN TransplantChild Healthcare Working Group Survey.
Baker A, Frauca Remacha E, Torres Canizales J, Bravo-Gallego LY, Fitzpatrick E, Alonso Melgar A, Muñoz Bartolo G, Garcia Guereta L, Ramos Boluda E, Mozo Y, Broniszczak D, Jarmużek W, Kalicinski P, Maecker-Kolhoff B, Carlens J, Baumann U, Roy C, Chardot C, Benetti E, Cananzi M, Calore E, Dello Strologo L, Candusso M, Lopes MF, Brito MJ, Gonçalves C, Do Carmo C, Stephenne X, Wennberg L, Stone R, Rascon J, Lindemans C, Turkiewicz D, Giraldi E, Nicastro E, D'Antiga L, Ackermann O, Jara Vega P. Baker A, et al. Among authors: munoz bartolo g. Children (Basel). 2021 Jul 29;8(8):661. doi: 10.3390/children8080661. Children (Basel). 2021. PMID: 34438552 Free PMC article.
15 results