Crigler-Najjar syndrome type II

Crigler JF, Najjar VA: Congenital familial nonhemolytic jaundice with kernicterus. Pediatrics 10:169–180, 1952 Childs B, Najjar VA: Familial nonhemolytic jaundice with kernicterus: A report of two cases without neurologic damage. Pediatrics 18:369–377, 1956 Childs B, Sidbury JB, Migeon CJ: Glucuronic acid conjugation by patients with familial non-hemolytic jaundice and their relatives. Pediatrics 23:903–913, 1959 Axelrod J, Schmid R, Hammaker L: A biochemical lesion in congenital, non-obstructive, non-hemolytical jaundice. Nature 180:1426–1434, 1957 Robertson KJ, Clarke D, Sutherland L, Wooster R, Coughtrie MWH, Burchell B: Investigations of the molecular basis of the genetic deficiency of UDP-glucuronyltransferase in Crigler-Najjar syndrome. J Inher Metab Dis 14:563–579, 1991 Bosma PJ, Chowdhury RJ, Huang TJ, Lahiri P, Elferink RPJO, Van Es HHG, Lederstein M, Whitington PF, Jansen PLM, Chowdhury ANR: Mechanism of inherited deficiencies of multiple UDP-glucuronyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I. FASEB J 6:2859–2863, 1992 Arias IM: Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults. J Clin Invest 41:2233–2245, 1962 Arias IM, Gartner LM, Cohen M, Ezzer JB, Levi AJ: Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyltransferase deficiency. Am. J. Med 47:395–409, 1969 Gordon ER, Shaffer EA, Sass-Kortsaka A: Bilirubin secretion and conjugation in the Crigler-Najjar syndrome type II. Gastroenterology 70:761–765, 1976 Jendrassik L, Grof P: Vereinfachte photometrische Methoden zur Bestimmung des Blutbilirubins. Biochem Z 297:81–89, 1938 Blankaert N, Kabra PM, Farina FA, Stafford BE, Marton LJ, Schmid R: Measurement of bilirubin and its monoconjugates and diconjugates in human serum by alkaline methanolysis and high performance liquid chromatography. J Lab Clin Med 96:198–212, 1980 Sieg A, König R, Ullrich D, Fevery J: Subfractionation of serum bilirubins by alkaline methanolysis and thin layer chromatography. An aid in the differential diagnosis of icteric diseases. J Hepatol 11:159–164, 1990 VanRoy FP, Heirwegh KPM: Determination of bilirubin glucuronide and assay of glucuronyltransferase with bilirubin as acceptor. Biochem J 107:507–518, 1968 Bock KW, Lilienbaum W, von Bahr C: Studies of UDP-glucuronyltransferase activities in human liver microsomes. Drug Metab Dispos 12:93–97, 1984 Blumenschein SD, Kallen RJ, Storey B, Natzschka C, Odell GB, Childs B: Familial nonhemolytic jaundice with late onset of neurological damage. Pediatrics 42:786–792, 1968 Blaschke TF, Berk PD, Scharschmidt BF, Guyther JR, Vergalla JM, Waggoner JG: Crigler-Najjar Syndrome: An unusual course with development of neurologic damage at age eighteen. Pediatr Res 8:573–590, 1974 Sinaasappel M, Jansen PM: The differential diagnosis of Crigler-Najjar disease, types 1 and 2, by bile pigment analysis. Gastroenterology 100:783–789, 1991 Gollan JL, Huang SM, Billing B, Sherlock S: Prolonged survival in three brothers with severe type II Crigler-Najjar syndrome. Ultrastructural and metabolic studies. Gastroenterology 68:1543–1555, 1975 Kreek MJ, Sleisinger MH: Reduction of serum-unconjugated bilirubin with phenobarbitone in adult congenital non-hemolytic unconjugated hyperbilirubinemia. Lancet 2:73–78, 1968 Owens IS, Ritter JK. The novel bilirubin/phenol UDP-glucuronyltransferase UGT1 gene locus: Implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. Pharmacogenetics 2:93–108, 1992 Labrune P, Myara A, Hennion C, Gout P, Trivin F, Odievre M: Crigler-Najjar type II disease inheritance: A family study. J Inher Metab Dis 12:302–306, 1989 Schmid R, Hammaker L: Metabolism and disposition of C14-bilirubin in congenital nonhemolytic jaundice. J Clin Invest 42:1720–1734, 1963 Berry CS, Zarembo JE, Ostrow JD: Evidence of conversion of bilirubin to dihydroxyl derivatives in the Gunn rat. Biochem Biophys Res Commun 49:1366–1375, 1972 Lightner DA: Products of bilirubin photodegradation.In The Chemistry and Physiology of Bile Pigments. PD Berk, NI Berlin (eds). Washington, DC: US Government Printing Office, 1977, pp 93–104 Foulk WT, Butt HR, Owen CA, Whitcomb FF: Constitutional hepatic dysfunction (Gilbert disease): Its natural history and related syndromes. Medicine 38:26–46, 1959 Sieg A, Arab L, Schlief G, Stiehl A, Kommerell B: Die Prävalenz des Gilbert-Syndroms in Deutschland. DMW 112:1206–1208, 1987 Frezza M, Perona G, Corrocher R, Cellerino R, Bassetto MA, DeSandre G: Bilirubin-H3 kinetic studies: Pattern of normals, Gilbert's syndrome and hemolytic state. Acta Hepato-Gastroenterol 20:363–371, 1973 Black M, Billing BH: Hepatic bilirubin UDP glucuronyl transferase activity in liver disease and Gilbert's syndrome. N Engl J Med 280:1266–1272, 1969 Jansen PLM, Mulder GJ, Burchell B, Bock KW: New developments in glucuronidation research: Report of a workshop on “Glucuronidation, its role in health and disease.” Hepatology 15:532–544, 1992 McKusick VA: Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes. Baltimore, John Hopkins University Press, 10th ed. 1992, no. 14.3500 Hunter JO, Thompson RPH, Dunn M, Williams R: Inheritance of type 2 Crigler-Najjar hyperbilirubinaemia. Gut 14:46–49, 1973