Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Jesus Quintero"'
Autor:
Patrick McKiernan, Jesus Quintero Bernabeu, Muriel Girard, Giuseppe Indolfi, Eberhard Lurz, Palak Trivedi
Publikováno v:
JHEP Reports, Vol 6, Iss 6, Pp 101058- (2024)
Externí odkaz:
https://doaj.org/article/7bf129223b0e40f5adba9a87ae1b09f4
Autor:
Patrick McKiernan, Jesus Quintero Bernabeu, Muriel Girard, Giuseppe Indolfi, Eberhard Lurz, Palak Trivedi
Publikováno v:
JHEP Reports, Vol 6, Iss 1, Pp 100949- (2024)
Background & Aims: Progressive familial intrahepatic cholestasis (PFIC) relates to a group of rare, debilitating, liver disorders which typically present in early childhood, but have also been reported in adults. Without early detection and effective
Externí odkaz:
https://doaj.org/article/d70557a763514a83ab3af93e8e462578
Autor:
Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade
Publikováno v:
JHEP Reports, Vol 5, Iss 2, Pp 100626- (2023)
Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with rela
Externí odkaz:
https://doaj.org/article/bbb97439dbff47198444dd0e83e7f0cb
Autor:
McKiernan, Patrick, Bernabeu, Jesus Quintero, Girard, Muriel, Indolfi, Giuseppe, Lurz, Eberhard, Trivedi, Palak
Publikováno v:
In JHEP Reports January 2024 6(1)
Autor:
Felzen, Antonia, van Wessel, Daan B.E., Gonzales, Emmanuel, Thompson, Richard J., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A., Wang, Kasper, Hansen, Bettina E., Verkade, Henkjan J.
Publikováno v:
In JHEP Reports February 2023 5(2)
Akademický článek
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Akademický článek
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Akademický článek
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Autor:
McKiernan, Patrick, Bernabeu, Jesus Quintero, Girard, Muriel, Indolfi, Giuseppe, Lurz, Eberhard, Trivedi, Palak
Publikováno v:
In JHEP Reports June 2024 6(6)
Autor:
Shannon M, Vandriel, Li-Ting, Li, Huiyu, She, Jian-She, Wang, Melissa A, Gilbert, Irena, Jankowska, Piotr, Czubkowski, Dorota, Gliwicz-Miedzińska, Emmanuel M, Gonzales, Emmanuel, Jacquemin, Jérôme, Bouligand, Nancy B, Spinner, Kathleen M, Loomes, David A, Piccoli, Lorenzo, D'Antiga, Emanuele, Nicastro, Étienne, Sokal, Tanguy, Demaret, Noelle H, Ebel, Jeffrey A, Feinstein, Rima, Fawaz, Silvia, Nastasio, Florence, Lacaille, Dominique, Debray, Henrik, Arnell, Björn, Fischler, Susan, Siew, Michael, Stormon, Saul J, Karpen, Rene, Romero, Kyung Mo, Kim, Woo Yim, Baek, Winita, Hardikar, Sahana, Shankar, Amin J, Roberts, Helen M, Evans, M Kyle, Jensen, Marianne, Kavan, Shikha S, Sundaram, Alexander, Chaidez, Palaniswamy, Karthikeyan, Maria Camila, Sanchez, Maria Lorena, Cavalieri, Henkjan J, Verkade, Way Seah, Lee, James E, Squires, Christina, Hajinicolaou, Chatmanee, Lertudomphonwanit, Ryan T, Fischer, Catherine, Larson-Nath, Yael, Mozer-Glassberg, Cigdem, Arikan, Henry C, Lin, Jesus Quintero, Bernabeu, Seema, Alam, Deirdre A, Kelly, Elisa, Carvalho, Cristina Targa, Ferreira, Giuseppe, Indolfi, Ruben E, Quiros-Tejeira, Pinar, Bulut, Pier Luigi, Calvo, Zerrin, Önal, Pamela L, Valentino, Dev M, Desai, John, Eshun, Maria, Rogalidou, Antal, Dezsőfi, Sabina, Wiecek, Gabriella, Nebbia, Raquel Borges, Pinto, Victorien M, Wolters, María Legarda, Tamara, Andréanne N, Zizzo, Jennifer, Garcia, Kathleen, Schwarz, Marisa, Beretta, Thomas Damgaard, Sandahl, Carolina, Jimenez-Rivera, Nanda, Kerkar, Jernej, Brecelj, Quais, Mujawar, Nathalie, Rock, Cristina Molera, Busoms, Wikrom, Karnsakul, Eberhard, Lurz, Ermelinda, Santos-Silva, Niviann, Blondet, Luis, Bujanda, Uzma, Shah, Richard J, Thompson, Bettina E, Hansen, Binita M, Kamath
Publikováno v:
Hepatology
Vandriel, S M, Li, L T, She, H, Wang, J S, Gilbert, M A, Jankowska, I, Czubkowski, P, Gliwicz-Miedzińska, D, Gonzales, E M, Jacquemin, E, Bouligand, J, Spinner, N B, Loomes, K M, Piccoli, D A, D'Antiga, L, Nicastro, E, Sokal, É, Demaret, T, Ebel, N H, Feinstein, J A, Fawaz, R, Nastasio, S, Lacaille, F, Debray, D, Arnell, H, Fischler, B, Siew, S, Stormon, M, Karpen, S J, Romero, R, Kim, K M, Baek, W Y, Hardikar, W, Shankar, S, Roberts, A J, Evans, H M, Jensen, M K, Kavan, M, Sundaram, S S, Chaidez, A, Karthikeyan, P, Sanchez, M C, Cavalieri, M L, Verkade, H J, Lee, W S, Squires, J E, Hajinicolaou, C, Lertudomphonwanit, C, Fischer, R T, Sandahl, T D & The Global ALagille Alliance (GALA) Study Group 2023, ' Natural history of liver disease in a large international cohort of children with Alagille syndrome : Results from the GALA study ', Hepatology, vol. 77, no. 2 . https://doi.org/10.1002/hep.32761
Hepatology, Vol. 77, no. 2, p. 512-529 (2023)
Vandriel, S M, Li, L T, She, H, Wang, J S, Gilbert, M A, Jankowska, I, Czubkowski, P, Gliwicz-Miedzińska, D, Gonzales, E M, Jacquemin, E, Bouligand, J, Spinner, N B, Loomes, K M, Piccoli, D A, D'Antiga, L, Nicastro, E, Sokal, É, Demaret, T, Ebel, N H, Feinstein, J A, Fawaz, R, Nastasio, S, Lacaille, F, Debray, D, Arnell, H, Fischler, B, Siew, S, Stormon, M, Karpen, S J, Romero, R, Kim, K M, Baek, W Y, Hardikar, W, Shankar, S, Roberts, A J, Evans, H M, Jensen, M K, Kavan, M, Sundaram, S S, Chaidez, A, Karthikeyan, P, Sanchez, M C, Cavalieri, M L, Verkade, H J, Lee, W S, Squires, J E, Hajinicolaou, C, Lertudomphonwanit, C, Fischer, R T, Sandahl, T D & The Global ALagille Alliance (GALA) Study Group 2023, ' Natural history of liver disease in a large international cohort of children with Alagille syndrome : Results from the GALA study ', Hepatology, vol. 77, no. 2 . https://doi.org/10.1002/hep.32761
Hepatology, Vol. 77, no. 2, p. 512-529 (2023)
Background and aims: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real-world data are lacking. This study aimed to elucidate the natural history