Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations.
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| Title: | Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations. |
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| Authors: | 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. |
| Source: | 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. |
| Publication Type: | Case Reports; Letter |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 8211545 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-4801 (Electronic) Linking ISSN: 02772116 NLM ISO Abbreviation: J Pediatr Gastroenterol Nutr Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1536-4801 |
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| DOI: | 10.1002/jpn3.12171 |
