The phenotype of compound heterozygous BSEP deficiency patients is determined by the combined residual function of the two ABCB11 mutations: results from the NAPPED consortium
Felzen, Antonia, van Wessel, Daan, Thompson, Richard, Gonzales, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad Ali, Broering, Dieter Clemens, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, JBF, Serranti, Daniele, Arıkan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Gonçalves, Cristina, Hierro, Loreto, Bartolo, Gema Muñoz, Glassberg, Yael Mozer, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy, Kamath, Binita M., Wang, Jian-She, Liting, Li, Durmaz, Ozlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Ruiz, Mathias, Targa, Cristina, Ferrero, Felipe Ordoñez, Wang, Heng, Kim, Kyungmo, Chen, Huey-Ling, Carvalho, Elisa, Hansen, Bettina, Verkade, Henkjan
Published in JOURNAL OF HEPATOLOGY (01.08.2020)
Published in JOURNAL OF HEPATOLOGY (01.08.2020)
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Conference Proceeding
THE PRESENCE OF A TRUNCATING MUTATION IN ABCB11 ABROGATES THE BENEFICIAL EFFECT OF A RESIDUAL FUNCTION MUTATION ON THE COURSE OF SEVERE BILE SALT EXPORT PUMP DEFICIENCY
Felzen, A, van Wessel, D, Thompson, RJ, Gonzales, EM, Jankowska, I, Shneider, BL, Sokal, E, Grammatikopoulos, T, Kadaristiana, A, Jacquemin, E, Spraul, A, Lipinski, P, Czubkowski, P, Rock, N, Shagrani, M, Broering, D, Algoufi, T, Mazhar, N, Nicastro, E, Kelly, D, Nebbia, G, Arnell, H, Fischler, B, Hulscher, J, Serranti, D, Arikan, C, Polat, E, Debray, D, Lacaille, F, Goncalves, C, Hierro, L, Bartolo, GM, Mozer-Glassberg, Y, Azaz, A, Brecelj, J, Dezsofi, A, Calvo, PL, Grabhorn, E, Hartleif, S, Van der Woerd, W, Kamath, BM, Wang, JS, Li, LT, Durmaz, O, Kerkar, N, Jorgensen, MH, Fischer, RT, Jimenez-Rivera, C, Alam, S, Cananzi, M, Ruiz, M, Ferreira, CT, Ferrero, FO, Wang, H, Sency, V, Kim, KM, Chen, HL, Carvalho, E, Fabre, A, Bernabeu, JQ, Alonso, EM, Sokol, RJ, Suchy, FJ, Loomes, KM, McKiernan, PJ, Rosenthal, P, Turmelle, Y, Horslen, SP, Schwarz, KB, Bezerra, JA, Wang, KS, Hansen, BE, Verkade, HJ
Published in HEPATOLOGY (2020)
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Published in HEPATOLOGY (2020)
Conference Proceeding
NATIVE LIVER SURVIVAL IN PATIENTS WITH FIC1 DEFICIENCY: IMPACT OF GENOTYPE, SERUM BILE ACID CONCENTRATIONS AND SURGICAL BILIARY DIVERSION
van Wessel, D, Thompson, RJ, Gonzales, EM, Jankowska, I, Shneider, BL, Sokal, E, Grammatikopoulos, T, Kadaristiana, A, Jacquemin, E, Spraul, A, Lipinski, P, Czubkowski, P, Rock, N, Shagrani, M, Broering, D, Algoufi, T, Mazhar, N, Nicastro, E, Kelly, D, Nebbia, G, Arnell, H, Fischler, B, Hulscher, J, Serranti, D, Arikan, C, Polat, E, Debray, D, Lacaille, F, Goncalves, C, Hierro, L, Bartolo, GM, Mozer-Glassberg, Y, Azaz, A, Brecelj, J, Dezsofi, A, Calvo, PL, Grabhorn, E, Hartleif, S, Van der Woerd, W, Wang, JS, Li, LT, Durmaz, O, Kerkar, N, Jorgensen, MH, Fischer, RT, Jimenez-Rivera, C, Alam, S, Cananzi, M, Laverdure, N, Ferreira, CT, Ferrero, FO, Wang, H, Sency, V, Kim, KM, Chen, HL, Carvalho, E, Fabre, A, Bernabeu, JQ, Alonso, EM, Sokol, RJ, Suchy, FJ, Loomes, KM, McKiernan, PJ, Rosenthal, P, Turmelle, YP, Rao, GS, Horslen, SP, Kamath, BM, Rogalidou, M, Karnsakul, W, Hansen, BE, Verkade, HJ
Published in HEPATOLOGY (2020)
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Published in HEPATOLOGY (2020)
Conference Proceeding