Progressive familial intrahepatic cholestasis

por Davit-Spraul, Anne, Gonzales, Emmanuel, Baussan, Christiane, Jacquemin, Emmanuel
Publicado 2009

Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome

por Mauvais, Francois-Xavier, Gonzales, Emmanuel, Davit-Spraul, Anne, Jacquemin, Emmanuel, Brauner, Raja
Publicado 2016

JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome

por Almes, Marion, Gardin, Antoine, Davit-Spraul, Anne, Bouligand, Jérôme, Habes, Dalila, Jacquemin, Emmanuel
Publicado 2023

Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease

por Dainese, Linda, Monin, Marie-Lorraine, Demeret, Sophie, Brochier, Guy, Froissart, Roseline, Spraul, Anne, Schiffmann, Raphael, Seilhean, Danielle, Mochel, Fanny
Publicado 2013

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

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

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy

por Gonzales, Emmanuel, Gardin, Antoine, Almes, Marion, Darmellah-Remil, Amaria, Seguin, Hanh, Mussini, Charlotte, Franchi-Abella, Stéphanie, Duché, Mathieu, Ackermann, Oanez, Thébaut, Alice, Habes, Dalila, Hermeziu, Bogdan, Lapalus, Martine, Falguières, Thomas, Combal, Jean-Philippe, Benichou, Bernard, Valero, Sonia, Davit-Spraul, Anne, Jacquemin, Emmanuel
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

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

por 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.
Publicado 2022