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Year Number of Results
1976 1
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1980 3
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1988 1
1989 1
1990 1
1991 1
1992 3
1993 3
1994 3
1995 4
1996 1
1997 4
1998 7
1999 4
2000 4
2001 4
2002 5
2003 2
2004 1
2005 9
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101 results

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Page 1
Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome).
Strassburg CP. Strassburg CP. Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):555-71. doi: 10.1016/j.bpg.2010.07.007. Best Pract Res Clin Gastroenterol. 2010. PMID: 20955959 Review.
Gilbert-Meulengracht disease leads to unconjugated hyperbilirubinemia because of impaired glucuronidation activity, and is part of a spectrum of genetic variants also encompassing fatal Crigler-Najjar syndrome. Gilbert-Meulengracht syndrome can be diag …
Gilbert-Meulengracht disease leads to unconjugated hyperbilirubinemia because of impaired glucuronidation activity, and is part of a spectru …
Inherited disorders of bilirubin clearance.
Memon N, Weinberger BI, Hegyi T, Aleksunes LM. Memon N, et al. Pediatr Res. 2016 Mar;79(3):378-86. doi: 10.1038/pr.2015.247. Epub 2015 Nov 23. Pediatr Res. 2016. PMID: 26595536 Free PMC article. Review.
Reduced hepatic bilirubin clearance can be due to defective (i) unconjugated bilirubin uptake and intrahepatic storage, (ii) conjugation of glucuronic acid to bilirubin (e.g., Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome, b …
Reduced hepatic bilirubin clearance can be due to defective (i) unconjugated bilirubin uptake and intrahepatic storage, (ii) conjugation of …
Diagnostic criteria and contributors to Gilbert's syndrome.
Wagner KH, Shiels RG, Lang CA, Seyed Khoei N, Bulmer AC. Wagner KH, et al. Crit Rev Clin Lab Sci. 2018 Mar;55(2):129-139. doi: 10.1080/10408363.2018.1428526. Epub 2018 Feb 1. Crit Rev Clin Lab Sci. 2018. PMID: 29390925 Review.
Diagnoses can include conditions of disordered bilirubin metabolism (Gilbert's, Crigler-Najjar, Rotor, or Dubin-Johnson syndromes) or an acquired disease, including alcoholic/non-alcoholic fatty liver disease, hepatotropic hepatitis, cirrhosis, or hepato-biliary mal …
Diagnoses can include conditions of disordered bilirubin metabolism (Gilbert's, Crigler-Najjar, Rotor, or Dubin-Johnson syndro …
Crigler-Najjar Syndrome: Current Perspectives and the Application of Clinical Genetics.
Ebrahimi A, Rahim F. Ebrahimi A, et al. Endocr Metab Immune Disord Drug Targets. 2018;18(3):201-211. doi: 10.2174/1871530318666171213153130. Endocr Metab Immune Disord Drug Targets. 2018. PMID: 29237388 Review.
BACKGROUND: Crigler-Najjar syndrome (CNS, OMIM: 218800) is the paradigm of an inborn error of metabolism and a rare genetic disease with an estimated incidence of 0.6-1.0 per million live births. ...RESULTS: Phototherapy, orthotropic liver transplantation, li …
BACKGROUND: Crigler-Najjar syndrome (CNS, OMIM: 218800) is the paradigm of an inborn error of metabolism and a rare gen …
Hereditary hyperbilirubinemias.
Radlović N. Radlović N. Srp Arh Celok Lek. 2014 Mar-Apr;142(3-4):257-60. doi: 10.2298/sarh1404257r. Srp Arh Celok Lek. 2014. PMID: 24839786 Free article. Review.
Inherited disorders of bilirubin metabolism involve four autosomal recessive syndromes: Gilbert, CriglerNajjar, Dubin-Johnson and Rotor, among which the first two are characterized by unconjugated and the second two by conjugated hyperbilirubinemia. Gilbert syndrome occurs …
Inherited disorders of bilirubin metabolism involve four autosomal recessive syndromes: Gilbert, CriglerNajjar, Dubin-Johnson and Rotor, amo …
Diagnosis and management of Crigler-Najjar syndrome.
Jansen PL. Jansen PL. Eur J Pediatr. 1999 Dec;158 Suppl 2:S89-94. doi: 10.1007/pl00014330. Eur J Pediatr. 1999. PMID: 10603107 Review.
Crigler-Najjar syndrome (CNS) results from a mutation in one of the five exons of the gene coding for the enzyme bilirubin-UDP-glucuronosyltransferase by exon 1*1 and exons 2-5 of the UDP-glucuronosyltransferase 1 locus, the bilirubin glucuronidating isoform
Crigler-Najjar syndrome (CNS) results from a mutation in one of the five exons of the gene coding for the enzyme biliru
[Crigler-Najjar syndrome].
Torres M, Bruguera M. Torres M, et al. Gastroenterol Hepatol. 2005 Dec;28(10):637-40. doi: 10.1016/s0210-5705(05)71530-2. Gastroenterol Hepatol. 2005. PMID: 16373016 Review. Spanish. No abstract available.
Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes.
Sampietro M, Iolascon A. Sampietro M, et al. Haematologica. 1999 Feb;84(2):150-7. Haematologica. 1999. PMID: 10091414 Review.
BACKGROUND AND OBJECTIVE: Crigler-Najjar syndromes type I and II and Gilbert's syndrome are familial unconjugated hyperbilirubinemias caused by genetic lesions involving a single complex locus encoding for bilirubin-UDP-glucuronosyltransferase which is involv …
BACKGROUND AND OBJECTIVE: Crigler-Najjar syndromes type I and II and Gilbert's syndrome are familial unconjugated hyper …
Gilbert's syndrome.
Watson KJ, Gollan JL. Watson KJ, et al. Baillieres Clin Gastroenterol. 1989 Apr;3(2):337-55. doi: 10.1016/0950-3528(89)90004-3. Baillieres Clin Gastroenterol. 1989. PMID: 2655758 Review.
However, other associated abnormalities in bilirubin metabolism, which occur less consistently, suggest that this may not be the sole defect in all patients. The syndrome is almost certainly part of a spectrum which includes the Crigler-Najjar syndromes; mole …
However, other associated abnormalities in bilirubin metabolism, which occur less consistently, suggest that this may not be the sole defect …
[Gilbert disease and type I and II Crigler-Najjar syndrome due to mutations in the same UGT1A1 gene locus].
Kraemer D, Scheurlen M. Kraemer D, et al. Med Klin (Munich). 2002 Sep 15;97(9):528-32. doi: 10.1007/s00063-002-1180-6. Med Klin (Munich). 2002. PMID: 12371080 Review. German.
BACKGROUND: Gilbert syndrome and the Crigler-Najjar syndromes Type I and II are disorders of bilirubin conjugation with consecutive indirect hyperbilirubinemia of different severity. Morbus Gilbert is a mild hyperbilirubinemia, which is only of significance i …
BACKGROUND: Gilbert syndrome and the Crigler-Najjar syndromes Type I and II are disorders of bilirubin conjugation with …
101 results