Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations-Reference-Cited by-同舟云学术

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

Published:2024-03 Issue:5 Volume:78 Page:1203-1204
ISSN:0277-2116
Container-title:Journal of Pediatric Gastroenterology and Nutrition
language:en
Short-container-title:J. pediatr. gastroenterol. nutr.

Author:

Thébaut Alice¹²,Aumar Madeleine³,Gardin Antoine¹²,Almes Marion¹²,Davit‐Spraul Anne²⁴,Jacquemin Emmanuel¹²^ORCID

Affiliation:

1. 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

2. Inserm U1193, Hepatinov Paris‐Saclay University Orsay France

3. Pediatric Gastroenterology Unit Jeanne de Flandre Hospital, Lille University Lille France

4. Biochemistry Unit Bicêtre Hospital, Assistance Publique—Hôpitaux de Paris, Paris‐Saclay University Le Kremlin‐Bicêtre France

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jpn3.12171

Reference5 articles.

1. Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood

2. Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency in China

3. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): Phenotypic differences between PFIC1 and PFIC2 and natural history

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

5. Plectin Mutations in Progressive Familial Intrahepatic Cholestasis