[Familial intrahepatic cholestasis. Novel advances].
In the last years hepatology has known remarkable improvement to understanding the mechanisms involved in familial intrahepatic cholestasis. The role of genetic anomalies is very important. Identification of genes involved in familial intrahepatic cholestasis has proven to be an important strategy to unravel the processes of bile acid synthesis and bile salt transport. The complexity of the mechanisms of bile flow clearly suggests that many more genetic abnormalities have yet to be identified.
Ludovico
L
Abenavoli
Vincenzo
V
De Maria
Massimo
M
DeSiena
Sebastiano
S
DiSalvo
Francesca
F
Giancotti
Tiziana
T
Gravina
Saverio M
SM
Abenavoli
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000251:Adenosine Triphosphatases / Q000235:genetics; D001647:Bile Acids and Salts / Q000378:metabolism; D002780:Cholestasis, Intrahepatic / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D020022:Genetic Predisposition to Disease; D006801:Humans; D008099:Liver / Q000378:metabolism; D009154:Mutation
D018528:ATP-Binding Cassette Transporters; D001647:Bile Acids and Salts; D000251:Adenosine Triphosphatases