References
- Jacquemin E. Progressive familial intrahepatic cholestasis. Genetic basis and treatment. Clin Liver Dis 2000;4:753-63. https://doi.org/10.1016/S1089-3261(05)70139-2
- Jacquemin E. Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases. Semin Liver Dis 2001;21:551-62. https://doi.org/10.1055/s-2001-19033
- Baussan C, Cresteil D, Gonzales E, Raynaud N, Dumont M, Bernard O, et al. Genetic cholestatic liver diseases: the example of progressive familial intrahepatic cholestasis and related disorders. Acta Gastroenterol Belg 2004;67:179-83.
- Shneider BL. ABCB4 disease presenting with cirrhosis and copper overload-potential confusion with Wilson disease. J Clin Exp Hepatol 2011;1:115-7. https://doi.org/10.1016/S0973-6883(11)60131-X
- Ramraj R, Finegold MJ, Karpen SJ. Progressive familial intrahepatic cholestasis type 3: overlapping presentation with Wilson disease. Clin Pediatr (Phila) 2012;51:689-91. https://doi.org/10.1177/0009922812451076
- European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol 2012; 56:671-85. https://doi.org/10.1016/j.jhep.2011.11.007
- Sternlieb I, Quintana N. Biliary proteins and ductular ultrastructure. Hepatology 1985;5:139-43. https://doi.org/10.1002/hep.1840050127
- Wendum D, Barbu V, Rosmorduc O, Arrive L, Flejou JF, Poupon R. Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations. Virchows Arch 2012;460:291-8. https://doi.org/10.1007/s00428-012-1202-6
- Sannier A, Ganne N, Tepper M, Ziol M. MDR3 immunostaining on frozen liver biopsy samples is not a sensitive diagnostic tool for the detection of heterozygous MDR3/ABCB4 gene mutations. Virchows Arch 2012;460:535-7. https://doi.org/10.1007/s00428-012-1231-1
- Jacquemin E, Hermans D, Myara A, Habes D, Debray D, Hadchouel M, et al. Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology 1997;25:519-23. https://doi.org/10.1002/hep.510250303
- Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis 2009;4:1. https://doi.org/10.1186/1750-1172-4-1
- Lai J, Taouli B, Iyer KR, Arnon R, Thung SN, Magid MS, et al. Cholangiolocellular carcinoma in a pediatric patient with small duct sclerosing cholangitis: a case report. Semin Liver Dis 2012;32:360-6.
- Jacquemin E, De Vree JM, Cresteil D, Sokal EM, Sturm E, Dumont M, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001;120:1448-58. https://doi.org/10.1053/gast.2001.23984
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