- The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthoodE Jacquemin
Hepatology Unit, Department of Pediatrics, and INSERM U 347, Hopital de Bicetre, Le Kremlin Bicetre, France
Gastroenterology 120:1448-58. 2001..We have specified the features of progressive familial intrahepatic cholestasis type 3 and investigated in 31 patients whether a defect of the multidrug resistance 3 gene (MDR3) underlies this phenotype...
- Progressive familial intrahepatic cholestasisE Jacquemin
Department of Pediatrics and INSERM U 347, Bicetre Hospital, Le Kremlin Bicetre, France
J Gastroenterol Hepatol 14:594-9. 1999..In the future, other therapies, such as cell and gene therapies, might be considered and could also represent an alternative to liver transplantation...
- Progressive familial intrahepatic cholestasis. Genetic basis and treatmentE Jacquemin
Hepatology Unit, Department of Pediatrics, and INSERM U347, University of Paris Sud School of Medicine, Hopital de Bicetre, Le Kremlin Bicetre, France
Clin Liver Dis 4:753-63. 2000....
- Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseasesE Jacquemin
Hepatology Unit, Department of Pediatrics, and INSERM U 347, Centre Hospitalier Universitaire de Bicetre, Paris, France
Semin Liver Dis 21:551-62. 2001..Therefore, at least three human liver diseases are due to a single gene deficiency. Patients with PFIC3 due to MDR3 deficiency may benefit from ursodeoxycholic acid therapy and could be good candidates for cell therapy in the future...
- [Recommendations of the French Hepatology, Gastroenterology and Pediatric Nutrition Group. Current indications for digestive system endoscopy in children]J F Mougenot
Service de Gastroentérologie pédiatrique, Hopital Robert Debre, 48, boulevard Serurier, 75935 Paris, France
Arch Pediatr 9:942-4. 2002
- Liver cell adenomas and portosystemic shuntV Dhalluin-Venier
Service des maladies du foie et de l appareil digestif, CHU Bicetre, 78, rue du General Leclerc, 94270 Le Kremlin Bicetre, France
Gastroenterol Clin Biol 32:164-6. 2008..Our patient had no known risk factors for liver cell adenomas. We discuss the hypothesis that disturbed hepatic vascularisation could promote the development of liver cell adenomas...
- Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancyE Jacquemin
Lancet 353:210-1. 1999
- Respiratory chain deficiency in Alpers syndromeM Gauthier-Villars
Department of Medical Genetics and INSERM U-393, , Paris, France
Neuropediatrics 32:150-2. 2001....
- Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasisP L Jansen
Department of Gastroenterology, University Hospital Groningen, Groningen, The Netherlands
Gastroenterology 117:1370-9. 1999..We investigated expression of the bile salt export pump (BSEP) in liver samples from patients with a PFIC phenotype and correlated this with BSEP gene mutations...
- Genetic cholestatic liver diseases: the example of progressive familial intrahepatic cholestasis and related disordersC Baussan
Biochemistry 1 Unit, Bicetre University Hospital, Le Kremlin Bicetre, France
Acta Gastroenterol Belg 67:179-83. 2004
- Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasisJ M de Vree
Department of Gastroenterology and Liver Diseases, Academic Medical Center F 0 116, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
Proc Natl Acad Sci U S A 95:282-7. 1998..The histopathological picture in these patients is very similar to that in the corresponding mdr2(-/-) mouse, in which mdr2 P-gp deficiency induces complete absence of phospholipid in bile...