Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Gabriella Nebbia"'
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:
Laura Cozzi, Federica Nuti, Irene Degrassi, Daniela Civeriati, Giulia Paolella, Gabriella Nebbia
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-5 (2022)
Abstract Background Several mutations of bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) have been reported in patients with unconjugated hyperbilirubinemia. Few reports are available about the p.Pro364Leu mutation (P364L, c.1091C
Externí odkaz:
https://doaj.org/article/1d3af71e788a432c90c29396ee6f5ce8
Autor:
Massimo Luca Castellazzi, Carlo Virginio Agostoni, Jessica Palella, Daniela Civeriati, Paola Marchisio, Gabriella Nebbia
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Ceftriaxone, a third-generation cephalosporin, is commonly used in pediatric patients and is generally well tolerated. Its more frequent adverse effects are biliary pseudolithiasis, urolithiasis, and hemolytic anemia. On the other hand, ceftriaxone-i
Externí odkaz:
https://doaj.org/article/12fdfa5e15cd40b18030d8363ec0ed90
Autor:
Silvia Vai, Francesca Broggi, Carla Colombo, Luciana Ghio, Alberto Edefonti, Fabrizia Corona, Gabriella Nebbia, Maria Luisa Bianchi
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100592- (2020)
Externí odkaz:
https://doaj.org/article/bf59a98cd0ae425ba6539f96f7a2f5a9
Autor:
Irene Degrassi, Chiara Amoruso, Giuseppe Giordano, Marina Del Puppo, Andrea Mignarri, Maria Teresa Dotti, Mauro Naturale, Gabriella Nebbia
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in various organs, particularly in brain and tendons. Most cases are diagnosed and treated in the
Externí odkaz:
https://doaj.org/article/2c64eb125fba4cfd8818d3f403fd2446
Autor:
Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been repo
Externí odkaz:
https://doaj.org/article/ffaf962b9ce84aa0a9b15b3548ddc11f
Autor:
Giuseppe Indolfi, Giusi Mangone, Elisa Bartolini, Gabriella Nebbia, Pier Luigi Calvo, Maria Moriondo, Pier-Angelo Tovo, Maurizio de Martino, Chiara Azzari, Massimo Resti
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e85899 (2014)
The rs12979860 single nucleotide polymorphism located on chromosome 19q13.13 near the interferon L3 gene (formerly and commonly known as interleukin 28B gene) has been associated in adults with both spontaneous and treatment induced clearance of hepa
Externí odkaz:
https://doaj.org/article/8d670c0d9b9a4aba8a787381946bc00a
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
Autor:
Maurizio Fuoti, Mara Cananzi, Giulia Paolella, Manila Candusso, Paola Francalanci, Lidia Monti, Emanuele Nicastro, Lorenzo D'Antiga, Carlo Dionisi Vici, Michele Pinon, Lorenza Matarazzo, Irene Degrassi, P. Gaio, Angelo Di Giorgio, Giusy Ranucci, Pier Luigi Calvo, Giuseppe Indolfi, Claudia Mandato, Fabio Mosca, Pietro Vajro, Maria Pia Bondioni, Maria Iascone, Maria Grazia Clemente, Federica Nuti, Marco Sciveres, Jean de Ville de Goyet, Claudia Della Corte, Marco Spada, Chiara Grimaldi, Federica Ferrari, Gabriella Nebbia, Giuseppe Maggiore, Fabio Fusaro, Daniele Serranti, Daniele Alberti, Fabiola Di Dato, Paola Roggero, Raffaele Iorio, Giovanni Boroni
Publikováno v:
Digestive and Liver Disease. 54:40-53
Neonatal and infantile cholestasis (NIC) can represent the onset of a surgically correctable disease and of a genetic or metabolic disorder worthy of medical treatment. Timely recognition of NIC and identification of the underlying etiology are param
Autor:
Silvia Riva, Pietro Vajro, Antonina Marta Cangelosi, Daniele Serranti, Erika Silvestro, Silvia Garazzino, Michele Pinon, Fabiola Di Dato, Greta Mastrangelo, Mara Cananzi, Raffaele Iorio, Federica Nuti, Emanuele Nicastro, Lorenzo D'Antiga, Pier Luigi Calvo, P. Gaio, Roberto Antonucci, Sandra Trapani, Icilio Dodi, Silvia Ricci, Elisa Bartolini, Matteo Lenge, Giuseppe Indolfi, Gabriella Nebbia, Federica Forlanini, Vania Giacomet
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 72:95-100
OBJECTIVES: Sofosbuvir/Ledipasvir (SOF/LDV) has been approved by the European Medicine Agency (EMA) for the treatment of children and adolescents (at least 3 years of age) with chronic hepatitis C (CHC) genotype 1, 3, and 4 infection. The aim of this