Literature DB >> 4692254

Inheritance of type 2 Crigler-Najjar hyperbilirubinaemia.

J O Hunter, R P Thompson, P M Dunn, R Williams.   

Abstract

The families of three patients with Crigler-Najjar hyperbilirubinaemia, type 2, whose plasma bilirubin levels had responded to phenobarbitone treatment, were investigated. All the parents and several relatives had mildly raised bilirubin levels. It is suggested that this condition may be an example of genetic heterogeneity and that the propositi had inherited two different abnormal genes. The separation of the Gilbert and type 2 Crigler-Najjar syndromes is at present arbitrary.

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Year:  1973        PMID: 4692254      PMCID: PMC1412576          DOI: 10.1136/gut.14.1.46

Source DB:  PubMed          Journal:  Gut        ISSN: 0017-5749            Impact factor:   23.059


  18 in total

1.  Pharmacological implications of microsomal enzyme induction.

Authors:  A H Conney
Journal:  Pharmacol Rev       Date:  1967-09       Impact factor: 25.468

2.  Low plasma-bilirubin in epileptics on phenobarbitone.

Authors:  R P Thompson; A L Eddleston; R Williams
Journal:  Lancet       Date:  1969-01-04       Impact factor: 79.321

3.  Treatment of unconjugated jaundice with dicophane.

Authors:  R P Thompson; G M Stathers; C W Pilcher; A E McLean
Journal:  Lancet       Date:  1969-07-05       Impact factor: 79.321

Review 4.  Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity.

Authors:  I M Arias; L M Gartner; M Cohen; J B Ezzer; A J Levi
Journal:  Am J Med       Date:  1969-09       Impact factor: 4.965

5.  Definition of normal blood bilirubin.

Authors:  H J Wetstone; M S Honeyman
Journal:  N Engl J Med       Date:  1968-03-07       Impact factor: 91.245

6.  Hepatic bilirubin udp-glucuronyl transferase activity in liver disease and gilbert's syndrome.

Authors:  M Black; B H Billing
Journal:  N Engl J Med       Date:  1969-06-05       Impact factor: 91.245

7.  Modification of Michaëlsson's method for the measurement of plasma total bilirubin.

Authors:  R P Thompson
Journal:  J Clin Pathol       Date:  1969-07       Impact factor: 3.411

8.  Studies on the familial incidence and clinical history of patients with chronic unconjugated hyperbilirubinaemia.

Authors:  P M Smith; J E Middleton; R Williams
Journal:  Gut       Date:  1967-10       Impact factor: 23.059

9.  Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families.

Authors:  L W Powell; E Hemingway; B H Billing; S Sherlock
Journal:  N Engl J Med       Date:  1967-11-23       Impact factor: 91.245

10.  Determination of bilirubin glucuronide and assay of glucuronyltransferase with bilirubin as acceptor.

Authors:  F P Van Roy; K P Heirwegh
Journal:  Biochem J       Date:  1968-04       Impact factor: 3.857

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  5 in total

Review 1.  New insights into the classification and mechanisms of hereditary, chronic, non-haemolytic hyperbilirubinaemias.

Authors:  P Berthelot; D Dhumeaux
Journal:  Gut       Date:  1978-06       Impact factor: 23.059

Review 2.  New insights in bilirubin metabolism and their clinical implications.

Authors:  Eva Sticova; Milan Jirsa
Journal:  World J Gastroenterol       Date:  2013-10-14       Impact factor: 5.742

3.  Crigler-Najjar type II disease inheritance: a family study.

Authors:  P Labrune; A Myara; C Hennion; J P Gout; F Trivin; M Odievre
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  Crigler-Najjar syndrome type II. New observation of possible autosomal recessive inheritance.

Authors:  S Güldütuna; U Langenbeck; K W Bock; A Sieg; U Leuschner
Journal:  Dig Dis Sci       Date:  1995-01       Impact factor: 3.199

5.  Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

Authors:  J Seppen; P J Bosma; B G Goldhoorn; C T Bakker; J R Chowdhury; N R Chowdhury; P L Jansen; R P Oude Elferink
Journal:  J Clin Invest       Date:  1994-12       Impact factor: 14.808

  5 in total

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