Progressive familial intrahepatic cholestasis

被引：0
|
作者：
Anne Davit-Spraul
Emmanuel Gonzales
Christiane Baussan
Emmanuel Jacquemin
机构：
[1] University of Paris-sud XI,Biochemistry, Bicêtre Hospital
[2] Assistance Publique-Hôpitaux de Paris,Pediatric Hepatology and National Reference Centre for Biliary Atresia, Bicêtre Hospital
[3] University of Paris-sud XI,INSERM, UMR
[4] Assistance Publique-Hôpitaux de Paris,S757
[5] University of Paris-sud XI,undefined
来源：
Orphanet Journal of Rare Diseases | / 4卷
关键词：
Bile Acid; Bile Salt; Cholestasis; ATP8B1 Gene; Progressive Familial Intrahepatic Cholestasis;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births.
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