메뉴 건너뛰기




Volumn 24, Issue 2, 1996, Pages 311-315

Current therapy for Crigler-Najjar syndrome type 1: Report of a world registry

(18)  Van Der Veere, Christa N a   Sinaasappel, Maarten b   Mcdonagh, Antony F c   Rosenthal, Philip d   Labrune, Philippe e   Odièvre, Michel e   Fevery, Johan f   Otte, Jean Bernard g   Mcclean, Patricia h   Bürk, Guido i   Masakowski, Victoria j   Sperl, Wolfgang k   Mowat, Alex P l   Vergani, Giorgina Mieli l   Heller, Klaus m   Wilson, J Paul b   Shepherd, Ross n   Jansen, Peter L M a  


Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE; METALLOPORPHYRIN;

EID: 15844397763     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1053/jhep.1996.v24.pm0008690398     Document Type: Article
Times cited : (144)

References (35)
  • 1
    • 0001438682 scopus 로고
    • Congenital familial nonhemolytic jaundice with kernicterus
    • Crigler JF, Najjar VA. Congenital familial nonhemolytic jaundice with kernicterus. Pediatrics 1952;10:169-179.
    • (1952) Pediatrics , vol.10 , pp. 169-179
    • Crigler, J.F.1    Najjar, V.A.2
  • 2
    • 0028063395 scopus 로고
    • Function and regulation of UDP-glucuronosyltransferase genes in health and liver disease: Report of the seventh international workshop on glucuronidation; September 1993; Pitlochry, Scotland
    • Burchell B, Coughtrie MWH, Jansen PLM. Function and regulation of UDP-glucuronosyltransferase genes in health and liver disease: report of the seventh international workshop on glucuronidation; September 1993; Pitlochry, Scotland. HEPATOLOGY 1994;20:1622-1630.
    • (1994) Hepatology , vol.20 , pp. 1622-1630
    • Burchell, B.1    Coughtrie, M.W.H.2    Jansen, P.L.M.3
  • 3
    • 0023220187 scopus 로고
    • Crigler-Najjar syndrome types I and II. Clinical experience - King's College Hospital 1972-1978. Phenobarbitone, phototherapy and liver transplantation
    • Pett S, Mowat AP. Crigler-Najjar syndrome types I and II. Clinical experience - King's College Hospital 1972-1978. Phenobarbitone, phototherapy and liver transplantation. Mol Aspects Med 1987;9:473-482.
    • (1987) Mol Aspects Med , vol.9 , pp. 473-482
    • Pett, S.1    Mowat, A.P.2
  • 6
    • 0026089013 scopus 로고
    • The differential diagnosis of Crigler-Najjar disease, types 1 and 2, by bile pigment analysis
    • Sinaasappel M, Jansen PLM. The differential diagnosis of Crigler-Najjar disease, types 1 and 2, by bile pigment analysis. Gastroenterology 1991; 100:783-789.
    • (1991) Gastroenterology , vol.100 , pp. 783-789
    • Sinaasappel, M.1    Jansen, P.L.M.2
  • 7
    • 0017669604 scopus 로고
    • Unconjugated bilirubin and an increased proportion of bilirubin monoconjugates in the bile of patients with Gilbert's syndrome and Crigler-Najjar syndrome
    • Fevery J, Blanckaert N, Heirwegh KPM, Preaux A-M, Berthelot P. Unconjugated bilirubin and an increased proportion of bilirubin monoconjugates in the bile of patients with Gilbert's syndrome and Crigler-Najjar syndrome. J Clin Invest 1977;60:970-979.
    • (1977) J Clin Invest , vol.60 , pp. 970-979
    • Fevery, J.1    Blanckaert, N.2    Heirwegh, K.P.M.3    Preaux, A.-M.4    Berthelot, P.5
  • 8
    • 0016807428 scopus 로고
    • Unconjugated hyperbilirubinemia: Physiologic evaluation and experimental approaches to therapy
    • Berk PD, Martin JF, Blaschke TF, Scharschmidt BF, Plotz PH. Unconjugated hyperbilirubinemia: physiologic evaluation and experimental approaches to therapy. Ann Intern Med 1975;82:552-570.
    • (1975) Ann Intern Med , vol.82 , pp. 552-570
    • Berk, P.D.1    Martin, J.F.2    Blaschke, T.F.3    Scharschmidt, B.F.4    Plotz, P.H.5
  • 10
    • 0014579106 scopus 로고
    • Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency
    • Arias IM, Gartner LM, Cohen M, Ben Ezzer J, Levi AJ. Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Am J Med 1969;47:395-409.
    • (1969) Am J Med , vol.47 , pp. 395-409
    • Arias, I.M.1    Gartner, L.M.2    Cohen, M.3    Ben Ezzer, J.4    Levi, A.J.5
  • 11
    • 0026505255 scopus 로고
    • Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, Type-I
    • Bosma PJ, Roy Chowdhury N, Goldhoorn BG, Hofker MH, Oude Elferink RPJ, Jansen PLM, Roy Chowdhury J. Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, Type-I. HEPATOLOGY 1992;15:941-947.
    • (1992) Hepatology , vol.15 , pp. 941-947
    • Bosma, P.J.1    Roy Chowdhury, N.2    Goldhoorn, B.G.3    Hofker, M.H.4    Oude Elferink, R.P.J.5    Jansen, P.L.M.6    Roy Chowdhury, J.7
  • 12
  • 14
    • 0028830211 scopus 로고
    • Altered coding for a strictly conserved di-glycine in the major bilirubin UDP-glucuronosyltransferase of a Crigler-Najjar type I patient
    • Ciotti M, Yeatman MT, Sokol RJ, Owens IS. Altered coding for a strictly conserved di-glycine in the major bilirubin UDP-glucuronosyltransferase of a Crigler-Najjar type I patient. J Biol Chem 1995;270:3284-3291.
    • (1995) J Biol Chem , vol.270 , pp. 3284-3291
    • Ciotti, M.1    Yeatman, M.T.2    Sokol, R.J.3    Owens, I.S.4
  • 15
    • 0027370170 scopus 로고
    • A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase
    • Ritter JK, Yeatman MT, Kaiser C, Gridelli B, Owens ID. A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase. J Biol Chem 1993;268:23573-23579.
    • (1993) J Biol Chem , vol.268 , pp. 23573-23579
    • Ritter, J.K.1    Yeatman, M.T.2    Kaiser, C.3    Gridelli, B.4    Owens, I.D.5
  • 16
    • 0028287482 scopus 로고
    • A new type of defect in the gene for bilirubin uridine 5′-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I
    • Aono S, Yamada Y, Keino H, Sasaoka Y, Nakagawa T, Onishi S, Mimura S, et al. A new type of defect in the gene for bilirubin uridine 5′-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I. Pediatr Res 1994;35:629-632.
    • (1994) Pediatr Res , vol.35 , pp. 629-632
    • Aono, S.1    Yamada, Y.2    Keino, H.3    Sasaoka, Y.4    Nakagawa, T.5    Onishi, S.6    Mimura, S.7
  • 17
    • 0027524805 scopus 로고
    • Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2
    • Moghrabi N, Clarke DJ, Boxer M, Burchell B. Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2. Genomics 1993;18:171-173.
    • (1993) Genomics , vol.18 , pp. 171-173
    • Moghrabi, N.1    Clarke, D.J.2    Boxer, M.3    Burchell, B.4
  • 18
    • 0023728999 scopus 로고
    • Crigler-Najjar syndrome: Treatment at home with phototherapy
    • O'Reilly C, Dixon R. Crigler-Najjar syndrome: treatment at home with phototherapy. Scott Med J 1988;33:335-336.
    • (1988) Scott Med J , vol.33 , pp. 335-336
    • O'Reilly, C.1    Dixon, R.2
  • 19
    • 0023190994 scopus 로고
    • Liver disorders in children: The indications for liver replacement in parenchymal and metabolic diseases
    • Mowat AP. Liver disorders in children: the indications for liver replacement in parenchymal and metabolic diseases. Transplant Proc 1987;19: 3236-3241.
    • (1987) Transplant Proc , vol.19 , pp. 3236-3241
    • Mowat, A.P.1
  • 20
    • 0026603027 scopus 로고
    • Cerebellar symptoms as the presenting manifestations of bilirubin encephalopathy in children with Crigler-Najjar type-I disease
    • Labrune PH, Myara A, Francoual J, Trivin F, Odièvre M. Cerebellar symptoms as the presenting manifestations of bilirubin encephalopathy in children with Crigler-Najjar type-I disease. Pediatrics 1992;89:768-770.
    • (1992) Pediatrics , vol.89 , pp. 768-770
    • Labrune, P.H.1    Myara, A.2    Francoual, J.3    Trivin, F.4    Odièvre, M.5
  • 22
    • 0023137332 scopus 로고
    • Crigler-Najjar syndrome type I: Treatment by home phototherapy followed by orthotopic hepatic transplantation
    • Shevell MI, Bernard B, Adelson JW, Doody DP, Laberge JM, Guttman FM. Crigler-Najjar syndrome type I: treatment by home phototherapy followed by orthotopic hepatic transplantation. J Pediatr 1987;110:429-431.
    • (1987) J Pediatr , vol.110 , pp. 429-431
    • Shevell, M.I.1    Bernard, B.2    Adelson, J.W.3    Doody, D.P.4    Laberge, J.M.5    Guttman, F.M.6
  • 23
    • 0027228152 scopus 로고
    • Orthotopic auxiliary liver transplantation for Crigler-Najjar syndrome type 1
    • Whitington PF, Emond JC, Heffron T, Thistlethwaite JR. Orthotopic auxiliary liver transplantation for Crigler-Najjar syndrome type 1. Lancet 1993; 342:779-780.
    • (1993) Lancet , vol.342 , pp. 779-780
    • Whitington, P.F.1    Emond, J.C.2    Heffron, T.3    Thistlethwaite, J.R.4
  • 25
    • 0027234052 scopus 로고
    • A mutation in bilirubin uridine 5′-diphosphate-glucuronosyltransferase isoform-1 causing Crigler-Najjar syndrome type-II
    • Bosma PJ, Goldhoorn B, Oude Elferink RPJ, Sinaasappel M, Oostra BA, Jansen PLM. A mutation in bilirubin uridine 5′-diphosphate-glucuronosyltransferase isoform-1 causing Crigler-Najjar syndrome type-II. Gastroenterology 1993;105:216-220.
    • (1993) Gastroenterology , vol.105 , pp. 216-220
    • Bosma, P.J.1    Goldhoorn, B.2    Oude Elferink, R.P.J.3    Sinaasappel, M.4    Oostra, B.A.5    Jansen, P.L.M.6
  • 26
    • 0026701911 scopus 로고
    • A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini
    • Ritter JK, Chen F, Sheen YY, Tran HM, Kimura S, Yeatman MT, Owens IS. A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini. J Biol Chem 1992;267:3257-3261.
    • (1992) J Biol Chem , vol.267 , pp. 3257-3261
    • Ritter, J.K.1    Chen, F.2    Sheen, Y.Y.3    Tran, H.M.4    Kimura, S.5    Yeatman, M.T.6    Owens, I.S.7
  • 27
    • 0028867826 scopus 로고
    • The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
    • Bosma PJ, Chowdhury JR, Bakker CTM, Gantla S, de Boer A, Oostra BA, Lindhout D, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 1995; 333:1171-1175.
    • (1995) N Engl J Med , vol.333 , pp. 1171-1175
    • Bosma, P.J.1    Chowdhury, J.R.2    Bakker, C.T.M.3    Gantla, S.4    De Boer, A.5    Oostra, B.A.6    Lindhout, D.7
  • 28
    • 0028904620 scopus 로고
    • Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome
    • Aono S, Adachi Y, Uyama E, Yamada Y, Keino H, Nanno T, Koiwai O, et al. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet 1995;345:958-959.
    • (1995) Lancet , vol.345 , pp. 958-959
    • Aono, S.1    Adachi, Y.2    Uyama, E.3    Yamada, Y.4    Keino, H.5    Nanno, T.6    Koiwai, O.7
  • 29
    • 0026764632 scopus 로고
    • Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type-I patient
    • Ritter JK, Yeatman MT, Ferreira P, Owens IS. Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type-I patient. J Clin Invest 1992; 90:150-155.
    • (1992) J Clin Invest , vol.90 , pp. 150-155
    • Ritter, J.K.1    Yeatman, M.T.2    Ferreira, P.3    Owens, I.S.4
  • 30
    • 0020369606 scopus 로고
    • Crigler-Najjar type I syndrome: Absence of hepatic bilirubin UDP-glucuronyl transferase activity and therapeutic response to light
    • Farrell GC, Gollan JL, Stevens SMB, Grierson JM. Crigler-Najjar type I syndrome: absence of hepatic bilirubin UDP-glucuronyl transferase activity and therapeutic response to light. Aust N Z J Med 1982;12:280-285.
    • (1982) Aust N Z J Med , vol.12 , pp. 280-285
    • Farrell, G.C.1    Gollan, J.L.2    Stevens, S.M.B.3    Grierson, J.M.4
  • 31
    • 0012355291 scopus 로고
    • Bilirubin metabolism in congenital nonhemolytic jaundice
    • Bloomer JR, Berk PD, Howe RB, Berlin NI. Bilirubin metabolism in congenital nonhemolytic jaundice. Pediatr Res 1971;5:256-264.
    • (1971) Pediatr Res , vol.5 , pp. 256-264
    • Bloomer, J.R.1    Berk, P.D.2    Howe, R.B.3    Berlin, N.I.4
  • 33
    • 0022495056 scopus 로고
    • Liver transplantation in Crigler-Najjar syndrome
    • Wolff H, Otto G, Giest H. Liver transplantation in Crigler-Najjar syndrome. Transplantation 1986;42:84.
    • (1986) Transplantation , vol.42 , pp. 84
    • Wolff, H.1    Otto, G.2    Giest, H.3
  • 34
    • 0027431871 scopus 로고
    • Crigler-Najjar syndrome type I - Management with a phototherapy crib mattress
    • Hughesbenzie R, Uttley DA, Heick HMC. Crigler-Najjar syndrome type I - management with a phototherapy crib mattress. Arch Dis Child 1993; 69:470.
    • (1993) Arch Dis Child , vol.69 , pp. 470
    • Hughesbenzie, R.1    Uttley, D.A.2    Heick, H.M.C.3
  • 35
    • 0025356252 scopus 로고
    • Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I
    • Van Es HHG, Goldhoorn BG, Paul-Abrahamse M, Oude Elferink RPJ, Jansen PLM. Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I. J Clin Invest 1990;85:1199-1205.
    • (1990) J Clin Invest , vol.85 , pp. 1199-1205
    • Van Es, H.H.G.1    Goldhoorn, B.G.2    Paul-Abrahamse, M.3    Oude Elferink, R.P.J.4    Jansen, P.L.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.