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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: fischler b. 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.
Incidence of Isolated Biliary Atresia during the COVID Lockdown in Europe: Results from a Collaborative Project by RARE-Liver.
Nomden M, Alizai NK, Betalli P, Bruggink JLM, Cananzi M, Christensen VB, D'Antiga L, Davenport M, Fischler B, Hindemith L, Hukkinen M, Johansen LS, de Kleine RH, Madadi-Sanjani O, Ong EGP, Pakarinen MP, Petersen C, Ruiz M, Schunn M, Sturm E, Verkade HJ, Wildhaber BE, Hulscher JBF, On Behalf Of Members Of The Biliary Atresia And Related Disorders Bard Community The Ern Ra-Re-Liver. Nomden M, et al. Among authors: fischler b. J Clin Med. 2023 Jan 18;12(3):775. doi: 10.3390/jcm12030775. J Clin Med. 2023. PMID: 36769422 Free PMC article.
Long-term Outcome of Asymptomatic Patients With Graft Fibrosis in Protocol Biopsies After Pediatric Liver Transplantation.
Hartleif S, Hodson J, Lloyd C, Cousin VL, Czubkowski P, D'Antiga L, Debray D, Demetris A, Di Giorgio A, Evans HM, Fischler B, Gonzales E, Gouw ASH, Hübscher SG, Jacquemin E, Lacaille F, Malenicka S, McLin VA, Markiewicz-Kijewska M, Mazariegos GV, Rajanayagam JK, Scheenstra R, Singer S, Smets F, Sokal E, Squires JE, Sturm E, Verkade H, Kelly DA; Graft Injury Group (GIG). Hartleif S, et al. Among authors: fischler b. Transplantation. 2023 Nov 1;107(11):2394-2405. doi: 10.1097/TP.0000000000004603. Epub 2023 Oct 21. Transplantation. 2023. PMID: 37143195
Vaccination practices in pediatric transplantation: A survey among member centers of the European reference network TransplantChild.
Donà D, Bravo-Gallego LY, Remacha EF, Cananzi M, Gastaldi A, Canizalez JT, Stephenne X, Lacaille F, Lindemans C, Calore E, Galea N, Benetti E, Nachbaur E, Sandes AR, Teixeira A, Ferreira S, Klaudel-Dreszler M, Ackermann O, Boyer O, Espinosa L, Guereta LG, Sciveres M, Fischler B, Schwerk N, Neland M, Nicastro E, Dello Strologo L, Toporski J, Vainumae I, Rascon J, Urbonas V, Del Rosal T, López-Granados E, Perilongo G, Baker A, Vega PJ; ERN TransplantChild Healthcare Working Group. Donà D, et al. Among authors: fischler b. Pediatr Transplant. 2023 Nov;27(7):e14589. doi: 10.1111/petr.14589. Epub 2023 Aug 5. Pediatr Transplant. 2023. PMID: 37543721
∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.
Gardin A, Ruiz M, Beime J, Cananzi M, Rathert M, Rohmer B, Grabhorn E, Almes M, Logarajah V, Peña-Quintana L, Casswall T, Darmellah-Remil A, Reyes-Domínguez A, Barkaoui E, Hierro L, Baquero-Montoya C, Baumann U, Fischler B, Gonzales E, Davit-Spraul A, Laplanche S, Jacquemin E. Gardin A, et al. Among authors: fischler b. Orphanet J Rare Dis. 2023 Dec 7;18(1):383. doi: 10.1186/s13023-023-02984-z. Orphanet J Rare Dis. 2023. PMID: 38062451 Free PMC article.
Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.
Hansen BE, Vandriel SM, Vig P, Garner W, Mogul DB, Loomes KM, Piccoli DA, Rand EB, Jankowska I, Czubkowski P, Gliwicz-Miedzińska D, Gonzales EM, Jacquemin E, Bouligand J, D'Antiga L, Nicastro E, Arnell H, Fischler B, Sokal É, Demaret T, Siew S, Stormon M, Karpen SJ, Romero R, Ebel NH, Feinstein JA, Roberts AJ, Evans HM, Sundaram SS, Chaidez A, Hardikar W, Shankar S, Fischer RT, Lacaille F, Debray D, Lin HC, Jensen MK, Jaramillo C, Karthikeyan P, Indolfi G, Verkade HJ, Larson-Nath C, Quiros-Tejeira RE, Valentino PL, Rogalidou M, Dezsőfi A, Squires JE, Schwarz K, Calvo PL, Bernabeu JQ, Zizzo AN, Nebbia G, Bulut P, Santos-Silva E, Fawaz R, Nastasio S, Karnsakul W, Tamara ML, Busoms CM, Kelly DA, Sandahl TD, Jimenez-Rivera C, Banales JM, Mujawar Q, Li LT, She H, Wang JS, Kim KM, Oh SH, Sanchez MC, Cavalieri ML, Lee WS, Hajinicolaou C, Lertudomphonwanit C, Waisbourd-Zinman O, Arikan C, Alam S, Carvalho E, Melere M, Eshun J, Önal Z, Desai DM, Wiecek S, Pinto RB, Wolters VM, Garcia J, Beretta M, Kerkar N, Brecelj J, Rock N, Lurz E, Blondet N, Shah U, Thompson RJ, Kamath BM; Global ALagille Alliance (GALA) Study Group. Hansen BE, et al. Among authors: fischler b. Hepatology. 2023 Dec 25. doi: 10.1097/HEP.0000000000000727. Online ahead of print. Hepatology. 2023. PMID: 38146932
Liver Transplantation for Primary Sclerosing Cholangitis (PSC) With or Without Inflammatory Bowel Disease (IBD)-A European Society of Organ Transplantation (ESOT) Consensus Statement.
Carbone M, Della Penna A, Mazzarelli C, De Martin E, Villard C, Bergquist A, Line PD, Neuberger JM, Al-Shakhshir S, Trivedi PJ, Baumann U, Cristoferi L, Hov J, Fischler B, Hadzic NH, Debray D, D'Antiga L, Selzner N, Belli LS, Nadalin S. Carbone M, et al. Among authors: fischler b. Transpl Int. 2023 Sep 29;36:11729. doi: 10.3389/ti.2023.11729. eCollection 2023. Transpl Int. 2023. PMID: 37841645 Free PMC article.
Sex differences and risk factors for bleeding in Alagille syndrome.
Hankeova S, Van Hul N, Laznovsky J, Verboven E, Mangold K, Hensens N, Adori C, Verhoef E, Zikmund T, Dawit F, Kavkova M, Salplachta J, Sjöqvist M, Johansson BR, Hassan MG, Fredriksson L, Baumgärtel K, Bryja V, Lendahl U, Jheon A, Alten F, Fahnehjelm KT, Fischler B, Kaiser J, Andersson ER. Hankeova S, et al. Among authors: fischler b. EMBO Mol Med. 2022 Dec 7;14(12):e15809. doi: 10.15252/emmm.202215809. Epub 2022 Nov 8. EMBO Mol Med. 2022. PMID: 36345711 Free PMC article.
202 results