Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations.

Autor: Thébaut A; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France.; Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, France., Aumar M; Pediatric Gastroenterology Unit, Jeanne de Flandre Hospital, Lille University, Lille, France., Gardin A; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France.; Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, France., Almes M; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France.; Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, France., Davit-Spraul A; Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, France.; Biochemistry Unit, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France., Jacquemin E; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France.; Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, France.
Jazyk: angličtina
Zdroj: Journal of pediatric gastroenterology and nutrition [J Pediatr Gastroenterol Nutr] 2024 May; Vol. 78 (5), pp. 1203-1204. Date of Electronic Publication: 2024 Mar 01.
DOI: 10.1002/jpn3.12171
Databáze: MEDLINE