Prevention and Treatment of Intestinal Failure-Associated Liver Disease in Children

por Norsa, Lorenzo, Nicastro, Emanuele, Di Giorgio, Angelo, Lacaille, Florence, D’Antiga, Lorenzo
Publicado 2018

Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia

por ALSAFRI, Maleha S., CHARBIT-HENRION, Fabienne, LACAILLE, Florence, BOURRAT, Emmanuelle, STEFFANN, Julie, HADJ-RABIA, Smail
Publicado 2020

Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case

por Xinias, Ioannis, Mavroudi, Antigoni, Mouselimis, Dimitrios, Tsarouchas, Anastasios, Vasilaki, Konstantina, Roilides, Ioannis, Lacaille, Florence, Giouleme, Olga
Publicado 2018

Coexistent sickle-cell anemia and autoimmune disease in eight children: pitfalls and challenges

por Li-Thiao-Te, Valerie, Uettwiller, Florence, Quartier, Pierre, Lacaille, Florence, Bader-Meunier, Brigitte, Brousse, Valentine, de Montalembert, Mariane
Publicado 2018

Hepatobiliary Complications in Children with Sickle Cell Disease: A Retrospective Review of Medical Records from 616 Patients

por Allali, Slimane, de Montalembert, Mariane, Brousse, Valentine, Heilbronner, Claire, Taylor, Melissa, Brice, Josephine, Manzali, Elisabetta, Garcelon, Nicolas, Lacaille, Florence
Publicado 2019

Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

por Demaret, Tanguy, Lacaille, Florence, Wicker, Camille, Arnoux, Jean-Baptiste, Bouchereau, Juliette, Belloche, Claire, Gitiaux, Cyril, Grevent, David, Broissand, Christine, Adjaoud, Dalila, Abi Warde, Marie-Thérèse, Plantaz, Dominique, Bekri, Soumeya, de Lonlay, Pascale, Brassier, Anaïs
Publicado 2021

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening

por Hajji, Hela, Imbard, Apolline, Spraul, Anne, Taibi, Ludmia, Barbier, Valérie, Habes, Dalila, Brassier, Anaïs, Arnoux, Jean-Baptiste, Bouchereau, Juliette, Pichard, Samia, Sissaoui, Samira, Lacaille, Florence, Girard, Muriel, Debray, Dominique, de Lonlay, Pascale, Schiff, Manuel
Publicado 2022

Erkrankungen und Therapieformen des unteren Gastrointestinaltrakts

por Fuchs, Jörg, Ellerkamp, Verena, Zimmer, Klaus-Peter, Steiß, Jens-Oliver, Hauer, Almuthe C., Buderus, Stephan, Keller, Klaus-Michael, von Schweinitz, Dietrich, Lacaille, Florence, Rümmele, Frank M., Goulet, Olivier, Müller, Herbert, Waag, Karl-Ludwig, Petersen, Claus
Publicado 2013

Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?

por Enaud, Laurent, Hadchouel, Alice, Coulomb, Aurore, Berteloot, Laureline, Lacaille, Florence, Boccon-Gibod, Liliane, Boulay, Vincent, Darcel, Françoise, Griese, Matthias, Linard, Mélinée, Louha, Malek, Renouil, Michel, Rivière, Jean-Pierre, Toupance, Bruno, Verkarre, Virginie, Delacourt, Christophe, de Blic, Jacques
Publicado 2014

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis

por Almes, Marion, Spraul, Anne, Ruiz, Mathias, Girard, Muriel, Roquelaure, Bertrand, Laborde, Nolwenn, Gottrand, Fréderic, Turquet, Anne, Lamireau, Thierry, Dabadie, Alain, Bonneton, Marjorie, Thebaut, Alice, Rohmer, Babara, Lacaille, Florence, Broué, Pierre, Fabre, Alexandre, Mention-Mulliez, Karine, Bouligand, Jérôme, Jacquemin, Emmanuel, Gonzales, Emmanuel
Publicado 2022

Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a med...

por Tuchmann‐Durand, Caroline, Thevenet, Eloise, Moulin, Florence, Lesage, Fabrice, Bouchereau, Juliette, Oualha, Mehdi, Khraiche, Diala, Brassier, Anaïs, Wicker, Camille, Gobin‐Limballe, Stéphanie, Arnoux, Jean‐Baptiste, Lacaille, Florence, Wicart, Clotilde, Coat, Bruno, Schlattler, Joel, Cisternino, Salvatore, Renolleau, Sylvain, Secretan, Philippe‐Henri, De Lonlay, Pascale
Publicado 2020

Arterial abnormalities identified in kidneys transplanted into children during the COVID-19 pandemic

por Berteloot, Laureline, Berthaud, Romain, Temmam, Sarah, Lozach, Cécile, Zanelli, Elisa, Blanc, Thomas, Heloury, Yves, Capito, Carmen, Chardot, Christophe, Sarnacki, Sabine, Garcelon, Nicolas, Lacaille, Florence, Charbit, Marina, Pastural, Myriam, Rabant, Marion, Boddaert, Nathalie, Leruez-Ville, Marianne, Eloit, Marc, Sermet-Gaudelus, Isabelle, Dehoux, Laurène, Boyer, Olivia
Publicado 2021

Severe and fatal neonatal infections linked to a new variant of echovirus 11, France, July 2022 to April 2023

por Grapin, Mathilde, Mirand, Audrey, Pinquier, Didier, Basset, Aurélie, Bendavid, Matthieu, Bisseux, Maxime, Jeannoël, Marion, Kireche, Bérengère, Kossorotoff, Manoelle, L’Honneur, Anne-Sophie, Robin, Lila, Ville, Yves, Renolleau, Sylvain, Lemee, Véronique, Jarreau, Pierre-Henri, Desguerre, Isabelle, Lacaille, Florence, Leruez-Ville, Marianne, Guillaume, Clémence, Henquell, Cécile, Lapillonne, Alexandre, Schuffenecker, Isabelle, Aubart, Mélodie
Publicado 2023

Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies

por Bull, Laura N., Pawlikowska, Ludmila, Strautnieks, Sandra, Jankowska, Irena, Czubkowski, Piotr, Dodge, Jennifer L., Emerick, Karan, Wanty, Catherine, Wali, Sami, Blanchard, Samra, Lacaille, Florence, Byrne, Jane A., van Eerde, Albertien M., Kolho, Kaija‐Leena, Houwen, Roderick, Lobritto, Steven, Hupertz, Vera, McClean, Patricia, Mieli‐Vergani, Giorgina, Sokal, Etienne, Rosenthal, Philip, Whitington, Peter F., Pawlowska, Joanna, Thompson, Richard J.
Publicado 2018

Systemic inflammatory syndrome in children with FARSA deficiency

por Charbit‐Henrion, Fabienne, Goguyer‐Deschaumes, Roman, Borensztajn, Keren, Mirande, Marc, Berthelet, Jérémy, Rodrigues‐Lima, Fernando, Khiat, Anis, Frémond, Marie‐Louise, Bader‐Meunier, Brigitte, Rodari, Marco M., Seabra, Luis, Rice, Gillian I., Legendre, Marie, Drummond, David, Berteloot, Laureline, Roux, Charles‐Joris, Boddaert, Nathalie, Drabent, Philippe, Molina, Thierry Jo, Lacaille, Florence, Kossorotoff, Manoelle, Cerf‐Bensussan, Nadine, Parlato, Marianna, Hadchouel, Alice
Publicado 2022

Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting

por Viti, Federica, De Giorgio, Roberto, Ceccherini, Isabella, Ahluwalia, Arti, Alves, Maria M., Baldo, Chiara, Baldussi, Giannina, Bonora, Elena, Borrelli, Osvaldo, Dall’Oglio, Luigi, De Coppi, Paolo, De Filippo, Carlotta, de Santa Barbara, Pascal, Diamanti, Antonella, Di Lorenzo, Carlo, Di Maulo, Ruggero, Galeone, Antonio, Gandullia, Paolo, Hashmi, Sohaib K., Lacaille, Florence, Lancon, Laurence, Leone, Salvatore, Mahé, Maxime M., Molnar, Maria Judit, Palmitelli, Alessandro, Perin, Silvia, Prato, Alessio Pini, Thapar, Nikhil, Vassalli, Massimo, Heuckeroth, Robert O.
Publicado 2023

UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking

por Duclaux-Loras, Rémi, Lebreton, Corinne, Berthelet, Jérémy, Charbit-Henrion, Fabienne, Nicolle, Ophelie, Revenu des Courtils, Céline, Waich, Stephanie, Valovka, Taras, Khiat, Anis, Rabant, Marion, Racine, Caroline, Guerrera, Ida Chiara, Baptista, Júlia, Mahe, Maxime M., Hess, Michael W., Durel, Béatrice, Lefort, Nathalie, Banal, Céline, Parisot, Mélanie, Talbotec, Cecile, Lacaille, Florence, Ecochard-Dugelay, Emmanuelle, Demir, Arzu Meltem, Vogel, Georg F., Faivre, Laurence, Rodrigues, Astor, Fowler, Darren, Janecke, Andreas R., Müller, Thomas, Huber, Lukas A., Rodrigues-Lima, Fernando, Ruemmele, Frank M., Uhlig, Holm H., Del Bene, Filippo, Michaux, Grégoire, Cerf-Bensussan, Nadine, Parlato, Marianna
Publicado 2022

Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis

por Thompson, Richard J., Artan, Reha, Baumann, Ulrich, Calvo, Pier Luigi, Czubkowski, Piotr, Dalgic, Buket, D’Antiga, Lorenzo, Di Giorgio, Angelo, Durmaz, Özlem, Gonzalès, Emmanuel, Grammatikopoulos, Tassos, Gupte, Girish, Hardikar, Winita, Houwen, Roderick H.J., Kamath, Binita M., Karpen, Saul J., Lacaille, Florence, Lachaux, Alain, Lainka, Elke, Loomes, Kathleen M., Mack, Cara L., Mattsson, Jan P., McKiernan, Patrick, Ni, Quanhong, Özen, Hasan, Rajwal, Sanjay R., Roquelaure, Bertrand, Shteyer, Eyal, Sokal, Etienne, Sokol, Ronald J., Soufi, Nisreen, Sturm, Ekkehard, Tessier, Mary Elizabeth, van der Woerd, Wendy L., Verkade, Henkjan J., Vittorio, Jennifer M., Wallefors, Terese, Warholic, Natalie, Yu, Qifeng, Horn, Patrick, Kjems, Lise
Publicado 2023

A multisociety Delphi consensus statement on new fatty liver disease nomenclature

por Rinella, Mary E., Lazarus, Jeffrey V., Ratziu, Vlad, Francque, Sven M., Sanyal, Arun J., Kanwal, Fasiha, Romero, Diana, Abdelmalek, Manal F., Anstee, Quentin M., Arab, Juan Pablo, Arrese, Marco, Bataller, Ramon, Beuers, Ulrich, Boursier, Jerome, Bugianesi, Elisabetta, Byrne, Christopher D., Castro Narro, Graciela E., Chowdhury, Abhijit, Cortez-Pinto, Helena, Cryer, Donna R., Cusi, Kenneth, El-Kassas, Mohamed, Klein, Samuel, Eskridge, Wayne, Fan, Jiangao, Gawrieh, Samer, Guy, Cynthia D., Harrison, Stephen A., Kim, Seung Up, Koot, Bart G., Korenjak, Marko, Kowdley, Kris V., Lacaille, Florence, Loomba, Rohit, Mitchell-Thain, Robert, Morgan, Timothy R., Powell, Elisabeth E., Roden, Michael, Romero-Gómez, Manuel, Silva, Marcelo, Singh, Shivaram Prasad, Sookoian, Silvia C., Spearman, C. Wendy, Tiniakos, Dina, Valenti, Luca, Vos, Miriam B., Wong, Vincent Wai-Sun, Xanthakos, Stavra, Yilmaz, Yusuf, Younossi, Zobair, Hobbs, Ansley, Villota-Rivas, Marcela, Newsome, Philip N.
Publicado 2023

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency

por van Wessel, Daan B.E., Thompson, Richard J., Gonzales, Emmanuel, 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, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer‐Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Luigi Calvo, Pier, Krebs‐Schmitt, Dorothee, Hartleif, Steffen, van der Woerd, Wendy L., Wang, Jian‐She, Li, Li‐ting, Durmaz, Özlem, Kerkar, Nanda, Hørby Jørgensen, Marianne, Fischer, Ryan, Jimenez‐Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noémie, Targa Ferreira, Cristina, Ordonez, Felipe, Wang, Heng, Sency, Valerie, Mo Kim, Kyung, Chen, Huey‐Ling, Carvalho, Elisa, Fabre, Alexandre, Quintero Bernabeu, Jesus, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Rao, Girish S., Horslen, Simon, Kamath, Binita M., Rogalidou, Maria, Karnsakul, Wikrom W., Hansen, Bettina, Verkade, Henkjan J.
Publicado 2021