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Cesko-Slovenska Pediatrie
Volumn 61, Issue 4, 2006, Pages 200-206
Progressive familial intrahepatic cholestasis - Manifestations and diagnosis in infancy
Author keywords

Bile salt export pump; Progressive familial intrahepatic cholestasis; Ursodeoxycholic acid
Indexed keywords

BILE SALT; GAMMA GLUTAMYLTRANSFERASE; PHOSPHOLIPID;
EID: 33646054233     PISSN: 00692328     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)
References (12)
  • 1
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    • A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
    • Strautnieks SS, Bull LN, Knisely AS, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat. Genet. 1998;20:233-823.
    • (1998) Nat. Genet. , vol.20 , pp. 233-823
    • Strautnieks, S.S.1    Bull, L.N.2    Knisely, A.S.3
  • 2
    • 0040284751 scopus 로고    scopus 로고
    • Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
    • de Vree JM, Jacquemin E, Sturm E, et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc. Nat. Acad. Sci. USA. 1998; 95:282-287.
    • (1998) Proc. Nat. Acad. Sci. USA , vol.95 , pp. 282-287
    • De Vree, J.M.1    Jacquemin, E.2    Sturm, E.3
  • 3
    • 0031907132 scopus 로고    scopus 로고
    • A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
    • Bull LN, van Eijk MJ, Pawlikowska L, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat. Genet. 1998;18:219-224.
    • (1998) Nat. Genet. , vol.18 , pp. 219-224
    • Bull, L.N.1    Van Eijk, M.J.2    Pawlikowska, L.3
  • 4
    • 21844468483 scopus 로고    scopus 로고
    • Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis
    • Noe J, Kullak-Ublick GA, Jochum W, et al. Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. J. Hepatol. 2005;43:536-543.
    • (2005) J. Hepatol. , vol.43 , pp. 536-543
    • Noe, J.1    Kullak-Ublick, G.A.2    Jochum, W.3
  • 6
    • 0037994064 scopus 로고    scopus 로고
    • Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT
    • Carlton VE, Harris BZ, Puffenberger EG, et al. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat. Genet. 2003;34:91-96.
    • (2003) Nat. Genet. , vol.34 , pp. 91-96
    • Carlton, V.E.1    Harris, B.Z.2    Puffenberger, E.G.3
  • 7
    • 12144290067 scopus 로고    scopus 로고
    • Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
    • Gissen P, Johnson CA, Morgan NV, et al. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat. Genet. 2004;36:400-404.
    • (2004) Nat. Genet. , vol.36 , pp. 400-404
    • Gissen, P.1    Johnson, C.A.2    Morgan, N.V.3
  • 8
    • 0028811161 scopus 로고
    • Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease)
    • Emond JC, Whitington PF. Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease). J. Pediatr. Surg. 1995;30:1635-1641.
    • (1995) J. Pediatr. Surg. , vol.30 , pp. 1635-1641
    • Emond, J.C.1    Whitington, P.F.2
  • 9
    • 0344876490 scopus 로고    scopus 로고
    • Surgical treatment of progressive familial intrahepatic cholestasis: Comparison of partial external biliary diversion and ileal bypass
    • Kalicinski PJ, Ismail H, Jankowska I, et al. Surgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypass. Europ. J. Pediatr. Surg. 2003;13:307-311.
    • (2003) Europ. J. Pediatr. Surg. , vol.13 , pp. 307-311
    • Kalicinski, P.J.1    Ismail, H.2    Jankowska, I.3
  • 10
    • 0027957852 scopus 로고
    • Histologic pathology of the liver in progressive familial intrahepatic cholestasis
    • Alonso EM, Snover DC, Montag A, et al. Histologic pathology of the liver in progressive familial intrahepatic cholestasis. J. Pediatr. Gastroenterol. Nutr. 1994;18:128-133.
    • (1994) J. Pediatr. Gastroenterol. Nutr. , vol.18 , pp. 128-133
    • Alonso, E.M.1    Snover, D.C.2    Montag, A.3
  • 11
    • 26244466002 scopus 로고    scopus 로고
    • Hepatocellular malignancy in ABCB11/BSEP disease (progressive familial intrahepatic cholestasis, type 2): Four patients
    • Meier Y, Stieger B, Moore L, et al. Hepatocellular malignancy in ABCB11/BSEP disease (progressive familial intrahepatic cholestasis, type 2): Four patients [abstr]. Hepatology. 2004;40:471A.
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  • 12
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    • Bile salt export pump (BSEP) deficiency is a significant risk factor for both paediatric and adult hepatobiliary malignancy
    • Knisely AS, Strautnieks S, Scheimann AO, et al. Bile salt export pump (BSEP) deficiency is a significant risk factor for both paediatric and adult hepatobiliary malignancy [abstr]. Hepatology. 2005;42:380A-381A.
    • (2005) Hepatology , vol.42
    • Knisely, A.S.1    Strautnieks, S.2    Scheimann, A.O.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.