SEARCH

SEARCH BY CITATION

References

  • 1
    Davit Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis 2009; 4: 1.
  • 2
    Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998; 18: 219-224.
  • 3
    Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, Van Eijk MJT, et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology 2004; 40: 27-38.
  • 4
    Cai SY, Gautam S, Nguyen T, Soroka CJ, Rahner C, Boyer JL. ATP8B1 disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. Gastroenterology 2009; 136: 1060-1069.
  • 5
    Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998; 20: 233-238.
  • 6
    Van Mil S, van der Woerd WL, van der Brugge G, Sturm E, Jansen PLM, Bull LN, et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004; 127: 379-384.
  • 7
    Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology 2008; 134: 1203-1214.
  • 8
    Lykavieris P, van Mil S, Cresteil D, Fabre M, Hadchouel M, Klomp L, et al. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol 2003; 39: 447-452.
  • 9
    Jansen PLM, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJEJ, et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 1999; 117: 1370-1379.
  • 10
    Chen HL, Chang PS, Hsu HC, Ni YH, Hsu HY, Lee JH, et al. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low alpha-glutamyltranspeptidase levels. J Pediatr 2002; 140: 119-124.
  • 11
    Lang C, Meier Y, Stieger B, Ulrich B, Lang T, Kerb R, et al. Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. Pharmacogenet Genomics 2007; 17: 47-60.
  • 12
    Pauli-Magnus C, Lang T, Meier Y, Zodan-Marin T, Jung D, Breymann C, et al. Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics 2004; 14: 91-102.
  • 13
    Alonso EM, Snover DC, Montag A, Freese DK, Whitington PF. Histologic pathology of the liver in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994; 18: 128-133.
  • 14
    Whitington PF, Freese DK, Alonso EM, Schwarzenberg SJ, Harp HL. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994; 18: 134-141.
  • 15
    Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, et al. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology 1997; 26: 155-164.
  • 16
    Stapelbroek JM, Peters TA, van Beurden DHA, Curfs JH, Joosten A, Beynon AJ, et al. ATP8B1 is essential for maintaining normal hearing. Proc Natl Acad Sci U S A 2009; 106: 9709-9714.
  • 17
    Myagawa-Hayashino A, Egawa H, Yorifuji T, Hasegawa M. Haga H, Tsuruyama T et al. Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation. Liver Transpl 2009; 15: 610-618.
  • 18
    Maggiore G, Bernard O, Riely CA, Hadchouel M, Lemonnier A, Alagille D. Normal γ-glutamyl-transpeptidase activity identifies groups of infants with idiopathic cholestasis with poor prognosis. J Pediatr 1987; 111: 251-252.
  • 19
    Jacquemin E, Hermans D, Myara A, Habes D, Debray D, Hadchouel M, et al. Ursodeoycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology 1997; 25: 519-523.
  • 20
    Jacquemin E, Dumont M, Bernard O, Erlinger S, Hadchouel M. Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease). Eur J Pediatr 1994; 153: 424-428.
  • 21
    Cynamon HA, Andres JM, Iafrate RP. Rifampin relieves pruritus in children with cholestatic liver disease. Gastroenterology 1990; 98: 1013-1016.
  • 22
    Emond JC, Whitington PF. Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease). J Pediatr Surg 1995; 30: 1635-1641.
  • 23
    Houdayer C, Dehainault C, Mattler C, Michaux D, Caux-Moncoutier V, Pages-Berhouet S, et al. Evaluation of in silico tools for decision making in molecular diagnosis. Hum Mut 2008; 29: 975-982.
  • 24
    Noe J, Stieger B, Meier PJ. Functional expression of the canalicular bile salt export pump of human liver. Gastroenterology 2002; 123: 1659-1666.
  • 25
    Jacquemin E, de Vree JLM, 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: 1448-1458.
  • 26
    Byrne JA, Strautnieks SS, Ihrke G, Pagani F, Knisely AS, Linton KJ, et al. Missense mutations and single nucleotide polymorphisms in ABCB11 impair BSEP processing and function or disrupt pre-mRNA splicing. Hepatology 2009; 49: 553-567.
  • 27
    Cutillo L, Najimi M, Smets F, Janssen M, Reding R, de Ville de Goyet J, et al. Safety of living-related liver transplantation for progressive familial intrahepatic cholestasis. Pediatr Transpl 2006; 10: 570-574.
  • 28
    Ismail H, Kalicinski P, Markiewicz M, Jankowska I, Pawłowska J, Kluge P, et al. Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion. Pediatr Transpl 1999; 3: 219-224.
  • 29
    Arnell H, Bergdahl S, Papadogiannakis N, Nemeth A, Fischler B. Preoperative observations and short-term outcome after partial external biliary diversion in 13 patients with progressive familial intrahepatic cholestasis. J Pediatr Surg 2008; 43: 1312-1320.
  • 30
    Yang H, Porte RJ, Verkade HJ, De Langen ZJ, Hulscher JBF. Partial external biliary diversion in children with progressive familial intrahepatic cholestasis and Alagille disease. J Pediatr Gastroenterol Nutr 2009; 49: 216-221.
  • 31
    Emerick KM, Elias M, Melin-Aldana H, Strautnieks S, Thompson RJ, Bull LN, et al. Bile composition in Alagille syndrome and PFIC patients having partial external biliary diversion. BMC Gastroenterol 2008; 8: 47.
  • 32
    Hayashi H, Sugiyama Y. 4-Phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps. Hepatology 2007; 45: 1506-1516.