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| 1 | Expanding etiology of progressive familial intrahepatic cholestasis显示文摘BACKGROUND Progressive familial intrahepatic cholestasis(PFIC)refers to a disparate group of autosomal recessive disorders that are linked by the inability to appropriately form and excrete bile from hepatocytes,resulting in a hepatocellular form of cholestasis.While the diagnosis of such disorders had historically been based on pattern recognition of unremitting cholestasis without other identified molecular or anatomic cause,recent scientific advancements have uncovered multiple specific responsible proteins.The variety of identified defects has resulted in an ever-broadening phenotypic spectrum,ranging from traditional benign recurrent jaundice to progressive cholestasis and end-stage liver disease.AIM To review current data on defects in bile acid homeostasis,explore the expanding knowledge base of genetic based diseases in this field,and report disease characteristics and management.METHODS We conducted a systemic review according to PRISMA guidelines.We performed a Medline/PubMed search in February-March 2019 for relevant articles relating to the understanding,diagnosis,and management of bile acid homeostasis with a focus on the family of diseases collectively known as PFIC.English only articles were accessed in full.The manual search included references of retrieved articles.We extracted data on disease characteristics,associations with other diseases,and treatment.Data was summarized and presented in text,figure,and table format.RESULTS Genetic-based liver disease resulting in the inability to properly form and secrete bile constitute an important cause of morbidity and mortality in children and increasingly in adults.A growing number of PFIC have been described based on an expanded understanding of biliary transport mechanism defects and the development of a common phenotype.CONCLUSION We present a summary of current advances made in a number of areas relevant to both the classically described FIC1(ATP8B1),BSEP(ABCB11),and MDR3(ABCB4)transporter deficiencies,as well as more recently described gene mutations--TJP2(TJP2),FXR(NR1H4),MYO5B(MYO5B),and others which expand the etiology and understanding of PFIC-related cholestatic diseases and bile transport. | Sarah AF Henkel Judy H Squires Mary Ayers Armando Ganoza Patrick Mckiernan James E Squires | 2019 | World Journal of Hepatology2019，11，5： | 13 |
| 2 | Guidelines for the management of iron deficiency anaemia 显示文摘 | GODDARD AF JAMES MW MCINTYRE AS | 2011 | Gut2011，60，10： | 1 |
| 3 | Mapping insulin/GLUT4 circuitry显示文摘 | Rowland AF Fazakerley DJ James DE | | 0，，： | 1 |
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| 6 | Gender-related differences in ventricular myocyte repolarization in the guinea pig显示文摘 | JAMES AF ARBERRY LA HANCOX JC | 2004 | Basic Res Cardiol2004，99，3： | 1 |
| 7 | Phase II trial of docetaxel in patients with stage III and IV non-small-cell lung cancer显示文摘 | Prudence AF James RR Mark GK etal | 1994 | J Olin Oncol1994，12，6： | 1 |
| 8 | Phase 1I trial of gemcitabine in patient with stage m and IV non-small cell lung cancer显示文摘 | Prodence AF James RR Mark GK et at | 1994 | J Clin Oncol1994，12，6： | 1 |
| 9 | Differential effect of sustained inflation recruitment maneuvers on alveolar epithelial and lung endothelial injury显示文摘 | James AF Danny FM Jorge A | 2005 | Crit Care Med2005，33，1： | 1 |
| 10 | Recent advanees in understanding sex differences in cardiac repolarization 显示文摘 | James AF Choisy SC Haneox JC | 2007 | Prog Biophys Mol Bio12007，94，3： | 1 |
| 11 | Effects of endothelin-1 on K+ current from rat ventricular myocytes显示文摘 | James AF Ramesey JE Reynolds AM | 2001 | Biochem Biophys Res Commun2001，284，： | 1 |
| 12 | Mapping insulin/GLUT4 circuitry显示文摘 | Rowland AF Fazakerley DJ James DE | 2011 | Traffic2011，12，6： | 1 |
| 13 | Differential effect of sustained inflation recruitment maneuvers on alveolar epit he- lial and lung endothelial injury显示文摘 | James AF Danny FM Jorge A | 2005 | Crit Care Med2005，33，18： | 1 |
| 14 | Extracorporeal removal of toxins显示文摘 | Pallavi KT James FW Donald AF | 2008 | Kidney Int2008，74，10： | 1 |
| 15 | Sacral and presacral tumor: problems in diagnasis and management 显示文摘 | Johan AF James L McGauley | 1989 | Neurosurgery1989，25，6： | 1 |
| 16 | The reliability of color Doppler ultrasound in diagnonsing total carotid artery occlusion显示文摘 | Aburahma AF Charleston WV James A | 1996 | Stroke1996，27，1： | 1 |
| 17 | Selectivity of action of an antiherpetic agent, 9- (2-hydroxyethoxymethyl) guanine 显示文摘 | GERTRUDE B E PHILLIP A F JAMES AF | 1977 | Proc Nail Acad Sci1977，74，： | 1 |
| 18 | Myocardial mitochondrial calcium accumulation modulates nuclear calcium accumulation and DNA fragmentation显示文摘 | Elizabeth AF James DM Takuro T | 1995 | Amm Thorac Surg1995，60，2： | 1 |
| 19 | Phase Ⅱ trial of docetaxel in patients with stage Ⅲ and Ⅳ non-small cell lung cancer显示文摘 | Prudence AF James RR Mark GK | 1994 | J Clin Oncol1994，12，6： | 1 |
| 20 | Guidelines for the management of iron deficiency anaemia 显示文摘 | Goddard AF James MW McIntyre AS | 2011 | Gut2011，60，10： | 1 |
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