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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.
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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  Data: Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations.
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  Data: <searchLink fieldCode="AU" term="%22Thébaut+A%22">Thébaut A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Aumar+M%22">Aumar M</searchLink>; Pediatric Gastroenterology Unit, Jeanne de Flandre Hospital, Lille University, Lille, France.<br /><searchLink fieldCode="AU" term="%22Gardin+A%22">Gardin A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Almes+M%22">Almes M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Davit-Spraul+A%22">Davit-Spraul A</searchLink>; Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, France.; Biochemistry Unit, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France.<br /><searchLink fieldCode="AU" term="%22Jacquemin+E%22">Jacquemin E</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%228211545%22">Journal of pediatric gastroenterology and nutrition</searchLink> [J Pediatr Gastroenterol Nutr] 2024 May; Vol. 78 (5), pp. 1203-1204. <i>Date of Electronic Publication: </i>2024 Mar 01.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8211545 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1536-4801 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2202772116%22">02772116 </searchLink><i>NLM ISO Abbreviation: </i>J Pediatr Gastroenterol Nutr <i>Subsets: </i>MEDLINE
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        Value: 10.1002/jpn3.12171
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              Text: 2024 May
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