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Year Number of Results
1965 1
1969 2
1970 1
1971 3
1974 1
1975 2
1976 3
1977 1
1978 2
1979 1
1980 1
1981 3
1982 2
1984 2
1986 2
1988 2
1989 2
1990 3
1992 2
1994 1
1996 1
1999 1
2002 1
2004 1
2005 1
2006 1
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2024 0

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48 results

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Page 1
Molecular genetics of unconjugated hyperbilirubinemia in Taiwanese.
Huang CS. Huang CS. J Biomed Sci. 2005;12(3):445-50. doi: 10.1007/s11373-005-3863-5. J Biomed Sci. 2005. PMID: 15965581 Review.
Although glucose-6-phosphate dehydrogenase (G6PD) deficiency is known to be associated with the development of neonatal hyperbilirubinemia, it was observed that in neonates severe hyperbilirubinemia caused by G6PD deficiency, without associated polymorphisms in the UGT1A1 …
Although glucose-6-phosphate dehydrogenase (G6PD) deficiency is known to be associated with the development of neonatal hyperbilirubinemia, …
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
van de Steeg E, Stránecký V, Hartmannová H, Nosková L, Hřebíček M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticová E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH. van de Steeg E, et al. J Clin Invest. 2012 Feb;122(2):519-28. doi: 10.1172/JCI59526. Epub 2012 Jan 9. J Clin Invest. 2012. PMID: 22232210 Free PMC article.
Here, we analyzed 8 Rotor-syndrome families and found that Rotor syndrome was linked to mutations predicted to cause complete and simultaneous deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3. ...
Here, we analyzed 8 Rotor-syndrome families and found that Rotor syndrome was linked to mutations predicted to cause complete and sim …
The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes.
Owens IS, Ritter JK. Owens IS, et al. Pharmacogenetics. 1992 Jun;2(3):93-108. doi: 10.1097/00008571-199206000-00001. Pharmacogenetics. 1992. PMID: 1306114 Review.
Accumulated evidence from studies with an animal model of CN Type I syndrome, the Gunn strain of hyperbilirubinemic rats, suggested that multiple isozymes are absent. These confounding observations have been clarified by a flurry of reports which have revealed the molecula …
Accumulated evidence from studies with an animal model of CN Type I syndrome, the Gunn strain of hyperbilirubinemic rats, suggested that mul …
New insights into the classification and mechanisms of hereditary, chronic, non-haemolytic hyperbilirubinaemias.
Berthelot P, Dhumeaux D. Berthelot P, et al. Gut. 1978 Jun;19(6):474-80. doi: 10.1136/gut.19.6.474. Gut. 1978. PMID: 98393 Free PMC article. Review.
An increased proportion of bilirubin monoglucuronide is always found in bile when a B-GTA deficiency is present. This observation strongly suggests a common biochemical defect in Gilbert's syndrome and in Crigler-Najjar disease, and thus renders the suggestion that the lat …
An increased proportion of bilirubin monoglucuronide is always found in bile when a B-GTA deficiency is present. This observation str …
Unconjugated hyperbilirubinaemia in achalasia.
Fevery J, Heirwegh KP, De Groote J. Fevery J, et al. Gut. 1974 Feb;15(2):121-4. doi: 10.1136/gut.15.2.121. Gut. 1974. PMID: 4820636 Free PMC article.
Moderate unconjugated hyperbilirubinaemia decreasing after pneumatic dilatation of the gastrooesophageal sphincter, so permitting a normal amount of food to be taken was observed in two patients with achalasia. Liver biopsy was performed, and hepatic digitonin-activated bi …
Moderate unconjugated hyperbilirubinaemia decreasing after pneumatic dilatation of the gastrooesophageal sphincter, so permitting a normal a …
Coronary Artery Disease in Patients With Disorders of Bilirubin Excretion.
Gupta N, Chaudhary R, Krishnamoorthy P, Mahajan S, Bodin R, Sule S. Gupta N, et al. Am J Ther. 2017 Nov-Dec;24(6):e653-e658. doi: 10.1097/MJT.0000000000000343. Am J Ther. 2017. PMID: 26448335
We aimed to determine the predictors of coronary artery disease (CAD) in patients with abnormal bilirubin excretion, that is, Gilbert syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome, and Rotor syndrome. ...Age, diabetes mellitus, hypertension, and hyperlipidemia …
We aimed to determine the predictors of coronary artery disease (CAD) in patients with abnormal bilirubin excretion, that is, Gilbert …
Coexpression of gene polymorphisms involved in bilirubin production and metabolism.
Lin Z, Fontaine J, Watchko JF. Lin Z, et al. Pediatrics. 2008 Jul;122(1):e156-62. doi: 10.1542/peds.2007-3249. Epub 2008 Jun 16. Pediatrics. 2008. PMID: 18558634
Similarly, OATP1B1 coding sequence gene variants were frequently observed. Moreover, in more than three quarters of the samples, >or=2 variants were detected, reflecting a high degree of polymorphism coexpression across these genes, including those who carried the Afric …
Similarly, OATP1B1 coding sequence gene variants were frequently observed. Moreover, in more than three quarters of the samples, > …
Relevance of urinary coproporphyrin isomers in hereditary hyperbilirubinemias.
Frank M, Doss MO. Frank M, et al. Clin Biochem. 1989 Jun;22(3):221-2. doi: 10.1016/s0009-9120(89)80080-3. Clin Biochem. 1989. PMID: 2736773
Intermediate isomer proportions were found in heterozygote carriers of DJS. An overlapping distribution of the isomer I/III ratio is observed in DJS and RS carriers, homozygous subjects with GS, and individuals suffering from alcohol-related intrahepatic cholestasis. ...
Intermediate isomer proportions were found in heterozygote carriers of DJS. An overlapping distribution of the isomer I/III ratio is obse …
Complete Absence of the Extrahepatic Biliary Tree in a Newborn With Pigmented Stools.
Hartmann P, Carter R, Keller B, Saenz NC, Schwarz KB. Hartmann P, et al. Pediatrics. 2021 Jul;148(1):e2020038596. doi: 10.1542/peds.2020-038596. Epub 2021 Jun 18. Pediatrics. 2021. PMID: 34398808
This conventional wisdom led to the development of the infant stool color card, which alerts parents to seek medical referral when pale stools are observed, a strategy that has been shown to improve survival in infants with biliary atresia (BA). ...
This conventional wisdom led to the development of the infant stool color card, which alerts parents to seek medical referral when pale stoo …
Effect of sodium phenobarbital on bilirubin metabolism in an infant with congenital, nonhemolytic, unconjugated hyperbilirubinemia, and kernicterus.
Crigler JF Jr, Gold NI. Crigler JF Jr, et al. J Clin Invest. 1969 Jan;48(1):42-55. doi: 10.1172/JCI105973. J Clin Invest. 1969. PMID: 5765026 Free PMC article.
Withdrawal of phenobarbital after the first study resulted in a gradual (30 days) return of serum bilirubin to pretreatment levels. The lower serum bilirubin concentrations observed when phenobarbital therapy was reinstituted were maintained for 61 days on 2.5 mg/kg per da …
Withdrawal of phenobarbital after the first study resulted in a gradual (30 days) return of serum bilirubin to pretreatment levels. The lowe …
48 results