Welcome to the Crigler-Najjar Syndrome Web Site
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O'Reilly C,Dixon R.Crigler-Najjar syndrome: treatment at home with phototherapy. Scott Med J 1988 Oct;33(5):335-6 •
Moutos D,Morris M,Marks W,Matson J,Bodensteiner J,Garnica A. Late onset neurologic deterioration in congenital non-hemolytic jaundice:treatment with charcoal hemoperfusion.Pediatr Res 1988;23:309A •
Jansen PLM, Oude Elferink RPJ.Hereditary hyperbilirubinemias: a molecular and mechanistic approach.Semin Liver Dis 1988;8:168-178 •
Ahmed P, Pratt A,Land VJ,Flye MW,Chaplin H.Multiple plasma exchanges successfully maintain a young adult patient with Crigler-Najjar syndrome type I..J Clin Apheresis 1989;5(1):17-20. •
Harding D,Jackson M,Corser R,Burchell B.Phenol UDP-glucuronosyltransferase deficiency in Gunn rats: mRNA levels are considerably reduced. Biochem Pharmacol 1989 Mar 15;38(6):1013-7 •
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study.J Inherit Metab Dis 1989;12(3):302-6 •
Bruni S,Chang TM.Hepatocytes immobilised by microencapsulation in artificial cells: effects on hyperbilirubinemia in Gunn rats. Biomater Artif Cells Artif Organs 1989;17(4):403-11 •
Rubaltelli FF,Guerrini P,Reddi E,Jori G.Tin-protoporphyrin in the management of children with Crigler-Najjar disease [see comments]. Comment in: Pediatrics 1990 Jul;86(1):151-2 .Pediatrics 1989 Oct;84(4):728-31 •
Cahill JF, McCarthy CF.Pregnancy and the Crigler-Najjar syndrome. J Obstet & Gynecol 1989;9:213-218 •
Scheurlen M.[Meulengracht's disease]. [German].Dtsch Med Wochenschr 1989 Nov 10;114(45):1767 •
van Es HH,Goldhoorn BG,Paul-Abrahamse M,Elferink RP,Jansen PL. Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I.J Clin Invest 1990 Apr;85(4):1199-205 •
Adachi Y, Yamashita M,Nanno T,Yamamoto T.Proportion of conjugated bilirubin in bile ?in relation to hepatic bilirubin UDP-glucuronyltransferase activity.Clin Biochem 1990 Apr;23(2):131-4 •
Adachi Y,Katoh H, Fuchi I,Yamamoto T.Serum bilirubin fractions in healthy subjects and ?patients with unconjugated hyperbilirubinemia.Clin Biochem 1990 Jun;23(3):247-51 •
McDonagh AF.Tin-protoporphyrin in the management of children with Crigler-Najjar disease [letter; comment].Comment on: Pediatrics 1989 Oct;84(4):728-31 Pediatrics 1990 Jul;86(1):151-2 •
Hernandez Gonzalez J,Gonzalez de Dios J, Diaz Fernandez MC,Hierro Llanillo L,de la Vega Bueno A, Camarena Grande C,Jara Vega P.[Crigler-Najjar syndrome type II occurring in twins]. [Review][Spanish].An Esp Pediatr 1990 Oct;33(4):376-80 •
Solomon G,Labar D,Galbraith RA,Schaefer J,Kappas A.Neurophysiological abnormalities in adolescents with type I Crigler-Najjar syndrome. Electroencephalogr Clin Neurophysiol 1990 Nov;76(5):473-5 •
Francoual J, Myara A,Trivin F,Leluc R,Odievre M.[Comparison of three methods evaluating the saturation of serum bilirubin transporters in children with type I Crigler Najjar disease]. [French]. Arch Fr Pediatr 1990 Dec;47(10):721-3 •
Nazer H,Gunasekaran TS,Sakati NA,Nyhan WL.Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins. Am J Med Genet 1990 Dec; 37(4): 516-8 •
Askari F,Roy Chowdhury N,van Es HHG,Jansen PLM,Lederstein M,Wilson JM,Roy Chowdhury J.Construction of retroviral vectors for transferring human bilirubin-UDP-glucuronyltransferase gene: towards gene therapy for Crigler-Najjar syndrome type I.Hepatology 1991;14:126A •
Mori Y,Kimura H,Suehiro K,Naritomi Y,Maeda Y,Kusaba T,Ishibashi D. [A case of Crigler-Najjar syndrome of type II]. [Japanese]. Nippon Naika Gakkai Zasshi 1991 Jan 10;80(1):102-3 •
Riely CA,Gordon ER.Crigler-Najjar syndrome type 1 explicated--thanks to liver transplantation. Gastroenterology 1991 Jan;100(1):279-81 •
Persico M,Romano M,Muraca M,Gentile S.Responsiveness to phenobarbital in an adult with Crigler-Najjar disease associated with neurological involvement and skin hyperextensibility.Hepatology 1991 Feb;13(2):213- 5 •
Sinaasappel M,Jansen PL.. The differential diagnosis of Crigler-Najjar disease, types 1 and 2, by bile pigment analysis.Gastroenterology 1991 Mar;100(3):783-9 •
Robertson KJ,Clarke D,Sutherland L,Wooster R,Coughtrie MW,Burchell B. Investigation of the molecular basis of the genetic deficiency of UDP-glucuronosyltransferase in ?Crigler-Najjar syndrome. [Review].J Inherit Metab Dis 1991;14(4):563-79 •
Volodin NN.[Crigler-Najjar syndrome in an infant during the 1st year of life]. [Russian].Pediatriia 1991;(9):100- 2 •
Girot R. [Unconjugated hyperbilirubinemia. Diagnostic orientation]. [French].Rev Prat 1991 Sep 1;41(19):1837-41 •
Taylor WG, Walkinshaw SA, Farquharson RG, Fisken RA, Gilmore IT. Pregnancy in Crigler-Najjar syndrome. Case report.Br J Obstet Gynaecol 1991 Dec;98(12):1290-1 •
Prager MC,Johnson KL,Ascher NL,Roberts JP.Anesthetic care of patients with Crigler-Najjar syndrome.Anesth Analg 1992 Jan;74(1):162-4 •
Galbraith RA,Drummond GS,Kappas A.Suppression of bilirubin production in the Crigler-Najjar type I syndrome: studies with the heme oxygenase inhibitor tin-mesoporphyrin [see comments].Comment in: Pediatrics 1992 Jun;89(6 Pt 2):1268-9, Comment in: Pediatrics 1993 Jul;92(1):184-5.Pediatrics 1992 Feb;89(2):175-82 •
Welty C. Crigler-Najjar syndrome (type I) and survival [letter].Gastroenterology 1992 Apr;102(4 Pt 1):1443 •
Labrune PH,Myara A,Francoual J,Trivin F,Odievre M.Cerebellar symptoms as the presenting manifestations of bilirubin encephalopathy in children with Crigler-Najjar type I disease.Pediatrics 1992 Apr;89(4 Pt 2):768-70 •
Labrune P, Odievre M.[Toward a treatment of Crigler-Najjar syndrome?]. [Review][French].Arch Fr Pediatr 1992 May;49(5):467-8 •
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 May;15(5):941-7 •
Hansen TW.More to be learned from Crigler-Najjar patients [letter; comment]. Comment on: Pediatrics 1992 Feb;89(2):175-82 .Pediatrics 1992 Jun;89(6 Pt 2):1268-9 •
Owens IS,Ritter JK.The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. [Review]. Pharmacogenetics 1992 Jun;2(3):93-108 •
Bosma PJ,Chowdhury JR,Huang TJ,Lahiri P,Elferink RP,Van Es HH,Lederstein M, Whitington PF,Jansen PL,Chowdhury NR.Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.FASEB J 1992 Jul;6(10):2859-63 •
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 Jul;90(1):150-5 •
Ihara H,Nakamura H,Aoki Y,Aoki T,Yoshida M.In vitro effects of light on serum bilirubin subfractions measured by high-performance liquid chromatography: comparison with four routine methods.Clin Chem 1992 Oct;38(10):2124-9 •
Adachi Y,Nanno T,Yamamoto T.[Japanese clinical statistical data of patients with constitutional jaundice]. [Review] [Japanese].Nippon Rinsho 1992 Nov;50 Suppl:677-85 •
Sato H,Aono S,Koiwai O.[Genetic defect of the hyperbilirubinemic Gunn rat, a model for Crigler-Najjar syndrome type I].[Japanese].Nippon Rinsho 1993 Feb;51(2): 501-6 •
Schwegler U,May B,Muller KM.[Crigler-Najjar syndrome type II in a 17-year-old girl]. [German]. Z Gastroenterol 1993 Feb;31 Suppl 2:83-4 •
Kappas A,Drummond GS,Galbraith RA.Prolonged clinical use of a heme oxygenase inhibitor: hematological evidence for an inducible but reversible iron-deficiency state. Pediatrics 1993 Mar;91(3):537-9 •
Kapitulnik J,Gonzalez FJ.Marked endogenous activation of the CYP1A1 and CYP1A2 genes in the congenitally jaundiced Gunn rat.Mol Pharmacol 1993 May;43(5):722-5 •
Hansen TW.More to be learned from Crigler-Najjar patients [letter; comment]. Comment on: Pediatrics 1992 Feb;89(2):175-82.Pediatrics 1993 Jul;92(1):184-5 •
Divers TJ,Schappel KA,Sweeney RW,Tennant BC.Persistent hyperbilirubinemia in a healthy thoroughbred horse.Cornell Vet 1993 Jul;83(3):237-42 •
Bosma PJ,Goldhoorn B,Oude Elferink RP,Sinaasappel M,Oostra BA,Jansen PL. A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II [see comments].Comment in: Gastroenterology 1993 Jul;105(1):288-93.Gastroenterology 1993 Jul;105(1):216-20 •
Chowdury JR,Chowdury NR.Unveiling the mysteries of inherited disorders of bilirubin glucuronidation [editorial; comment].Comment on: Gastroenterology 1993 Jul; 105(1):216-20.Gastroenterology 1993 Jul;105(1):288-93 •
Sinaasappel M.[Congenital diseases of bilirubin metabolism]. [Dutch] Tijdschr Kindergeneeskd 1993 Aug;61(4):135-40 •
Whitington PF,Emond JC,Heffron T,Thistlethwaite JR.Orthotopic auxiliary liver transplantation for Crigler- Najjar syndrome type 1 [see comments].Comment in: Lancet 1993 Sep 25;342(8874):758.Lancet 1993 Sep 25;342(8874):779-80 •
Moghrabi N,Clarke DJ,Burchell B,Boxer M.Cosegregation of intragenic markers with a ?novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis.Am J Hum Genet 1993 Sep;53(3):722-9 •
Raper SE,Wilson JM.Cell transplantation in liver-directed gene therapy [see comments]. Comment in: Cell Transplant 1993 Sep-Oct;2(5):401-3, Comment in: Cell Transplant 1993 Sep-Oct;2(5):405-6.Cell Transplant 1993 Sep-Oct;2(5):381-400; discussion 407-10 •
Hughes-Benzie R,Uttley DA,Heick HM.Crigler-Najjar syndrome type I: management with phototherapy crib mattress [letter]. Arch Dis Child 1993 Oct;69(4):470 •
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 Oct;18(1):171-3 •
Chowdhury JR,Kondapalli R,Chowdhury NR.Gunn rat: a model for inherited deficiency of bilirubin glucuronidation. [Review].Adv Vet Sci Comp Med 1993;37:149-73 •
Ritter JK,Yeatman MT,Kaiser C,Gridelli B,Owens IS.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 Nov 5;268(31):23573-9 •
Brierley CH,Burchell B.Human UDP-glucuronosyl transferases: chemical defence, jaundice and gene therapy. [Review].Bioessays 1993 Nov;15(11):749-54 •
defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II..Biochem Biophys Res Commun 1993 Dec 30;197(3):1239-44 •
Erps LT,Ritter JK,Hersh JH,Blossom D,Martin NC,Owens IS.Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro. J Clin Invest 1994 Feb;93(2):564-70 •
Kagita A,Adachi Y,Kambe A,Kamisako T,Yamamoto T.Type II crigler-Najjar syndrome with intrahepatic cholestasis.J Gastroenterol 1994 Apr;29(2):214-7 •
Kagita A,Adachi Y,Kambe A,Kamisako T,Yamamoto T.Type II crigler-Najjar syndrome with intrahepatic cholestasis.J Gastroenterol 1994 Apr;29(2):214-7 •
Aono S,Yamada Y,Keino H,Sasaoka Y,Nakagawa T,Onishi S,Mimura S,Koiwai O,Sato H. A new type of defect in the gene for bilirubin uridine 5'-diphosphate glucuronosyl transferase in a patient with Crigler-Najjar syndrome type I. Pediatr Res 1994 Jun;35(6):629-32 •
Bosma PJ,Seppen J,Goldhoorn B,Bakker C,Oude Elferink RP,Chowdhury JR, Chowdhury NR,Jansen PL.Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man [published erratum appears in J Biol Chem 1994 Oct 14;269(41):2542].J Biol Chem 1994 Jul 8;269(27):17960-4 •
Jenkins P.Orthotopic liver segment transplantation.Nurs Times 1994 Aug 24-30;90(34):40-1 •
Hu Z,Wells PG.Modulation of benzo[a]pyrene bioactivation by glucuronidation in lymphocytes and hepatic microsomes from rats with a hereditary deficiency in bilirubin UDP-glucuronosyltransferase.Toxicol Appl Pharmacol 1994 Aug;127(2):306-13 •
Senafi SB,Clarke DJ,Burchell B.Investigation of the substrate specificity of a cloned expressed human bilirubin UDP-glucuronosyltransferase: UDP-sugar specificity and involvement in steroid and xenobiotic glucuronidation.Biochem J 1994 Oct 1;303 ( Pt 1):233-40 •
Rubaltelli FF,Novello A,Zancan L, Vilei MT,Muraca M.Serum and bile bilirubin pigments in the differential diagnosis of Crigler-Najjar disease.Pediatrics 1994 Oct;94:553-6 •
Anonymous.The familial unconjugated hyperbilirubinemias. [Review].Semin Liver Dis 1994 Nov;14(4):356-85 •
Burchell B,Coughtrie MW,Jansen PL.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 Dec;20(6):1622-30 •
Labrune P,Myara A,Hadchouel M,Ronchi F,Bernard O,Trivin F,Chowdhury NR Chowdhury JR,Munnich A,Odievre M.Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.Hum Genet 1994 Dec;94(6):693-7 •
Seppen J,Bosma PJ,Goldhoorn BG,Bakker CT,Chowdhury JR,Chowdhury NR, Jansen PL,Oude Elferink RP.Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate- glucuronosyltransferase. J Clin Invest 1994 Dec;94(6):2385-91 •
Medley MM,Hooker RL,Rabinowitz S,Holton R,Jaffe BM.Correction of congenital indirect hyperbilirubinemia by small intestinal transplantation.Am J Surg 1995 Jan;169(1):20-7 •
Guldutuna S,Langenbeck U,Bock KW,Sieg A,Leuschner U.Crigler-Najjar syndrome type II. New observation of possible autosomal recessive inheritance.Dig Dis Sci 1995 Jan;40(1):28-32 •
Sokal EM.Quality of life after orthotopic liver transplantation in children.An overview of physical, psychological and social outcome.Eur J Pediatr 1995;154:171-175 •
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 Feb 17;270(7):3284-91 •
Younossi ZM,Foroozan P.Treatment of Crigler-Najjar type II with small-dose phenobarbital [letter].Dig Dis Sci 1995 Mar;40(3):575 •
Aono S,Adachi Y,Uyama E,Yamada Y,Keino H,Nanno T,Koiwai O,Sato H. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome [see comments]. Comment in: Lancet 1995 Jul 29;346(8970):314-5.Lancet 1995 Apr 15;345(8955):958-9 •
Rogiers X,Malago M,Habib N,Knoefel WT,Pothmann W,Burdelski M,Meyer-Moldenhauer WH, Broelsch CE.In situ splitting of the liver in the heart-beating cadaveric organ donor for transplantation in two recipients.Transplantation 1995 Apr 27;59(8):1081-3 •
Askari F,Hitomi E,Thiney M,Wilson JM.Retrovirus-mediated expression of HUG Br1 in Crigler-Najjar syndrome type I human fibroblasts and correction of the genetic defect in Gunn rat hepatocytes.Gene Ther 1995 May;2(3):203-8 •
Rubaltelli FF,Dario C,Zancan LCongenital nonobstructive, nonhemolytic jaundice: effect of tin- mesoporphyrin.Pediatrics 1995 Jun;95(6):942-4 •
Bosma P,Chowdhury JR,Jansen PH Genetic inheritance of Gilbert's syndrome [letter; comment].Comment on: Lancet 1995 Apr 15;345(8955):958-9 Lancet 1995 Jul 29;346(8970):314-5 •
syndromes.Hepatology 1995 Oct;22(4 Pt 1):1338-40 •
Sokal EM,Silva ES,Hermans D,Reding R,de Ville de Goyet J,Buts JP,Otte JB. Orthotopic liver transplantation for Crigler-Najjar type I disease in six children. Transplantation 1995 Nov 27;60(10):1095-8 •
Schmid R.Gilbert's syndrome--a legitimate genetic anomaly? [editorial; comment].Comment on: N Engl J Med 1995 Nov 2;333(18):1171-5 N Engl J Med 1995 Nov 2;333(18):1217-8 •
Bosma PJ,Chowdhury JR,Bakker C,Gantla S,de Boer A,Oostra BA,Lindhout D Tytgat GN,Jansen PL,Oude Elferink RP,et al.The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome [see comments].Comment in: N Engl J Med 1995 Nov 2;333(18):1217-8 N Engl J Med 1995 Nov 2;333(18):1171-5 •
van der Veere CN. Sinaasappel M. McDonagh AF. Rosenthal P. Labrune P. Odievre M. Fevery J. Otte JB. McClean P. Burk G. Masakowski V. Sperl W. Mowat AP. Vergani GM. Heller K. Wilson JP. Shepherd R. Jansen PL. Current therapy for Crigler-Najjar syndrome type 1: report of a world registry. Hepatology 1996; 24(2):311-5. •
Job H. Hart G. Lealman G. Improvements in long term phototherapy for patients with Crigler-Najjar syndrome type I. Physics in Medicine & Biology 1996; 41(11): 2549-56. •
Askari FK. Hitomi Y. Mao M. Wilson JM. Complete correction of hyperbilirubinemia in the Gunn rat model of Crigler-Najjar syndrome type I following transient in vivo adenovirus-mediated expression of human bilirubin UDP-glucuronosyltransferase. Gene Therapy 1996; 3(5):381-8. •
Kim BH. Takahashi M. Tada K. Bosma PJ. Roy-Chowdhury J. Roy-Chowdhury N. Cell and gene therapy for inherited deficiency of bilirubin glucuronidation. [Review] [39 refs] Journal of Perinatology 1996; 16(3 Pt 2): S67-72. •
King CD. Green MD. Rios GR. Coffman BL. Owens IS. Bishop WP. Tephly TR. The glucuronidation of exogenous and endogenous compounds by stably expressed rat and human UDP-glucuronosyltransferase 1.1. Archives of Biochemistry & Biophysics 1996;332(1):92-100. •
Brunelle FM. Raoof AA. de ville de Goyet J. Verbeeck RK. Glucuronidation of diflunisal, (-)-morphine, 4- nitrophenol, and propofol in liver microsomes of two patients with Crigler-Najjar syndrome type I. Biopharmaceutics & Drug Disposition 1996; 17(4):311-7. •
Hamada T. Miyamoto M. Oda S. Taniguchi K. Honda N. [Anesthetic and postoperative care of a patient with Crigler-Najjar syndrome type II]. [Japanese] Masui - Japanese Journal of Anesthesiology 1996; 45(3):345-7. •
Seppen J. Steenken E. Lindhout D. Bosma PJ. Elferink RP. A mutation which disrupts the hydrophobic core Yüklə 279,87 Kb. Dostları ilə paylaş:
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