Rotor syndrome

Rotor AB, Manahan L, Florentin A. Familial non-hemolytic jaundice with direct Van Den Bergh reaction. Acta Med Phil. 1948;5:37-49.

Vest MF, Kaufmann HJ, Fritz E. Chronic non-haemolytic jaundice with conjugated bilirubin in the serum and normal histology: a case study. Arch Dis Child. 1960;36:600-4.Full text  Abstract

Kwo PY, Cohen SM, Lim JK. ACG clinical guideline: evaluation of abnormal liver chemistries. Am J Gastroenterol. 2017 Jan;112(1):18-35.Full text  Abstract

1. Rotor AB, Manahan L, Florentin A. Familial non-hemolytic jaundice with direct Van Den Bergh reaction. Acta Med Phil. 1948;5:37-49.

2. Namihisa T, Yamaguchi K. The constitutional hyperbilirubinemia in Japan: studies in 139 cases reported during the period 1963 to 1969. Gastroenterol Jpn. 1973;8:311-21.

3. Fretzayas AM, Stavrinadis CS, Koukoutsakis PM, et al. Diagnostic approach of Rotor syndrome with cholescintigraphy. Clin Nucl Med. 1997;22:635-6. Abstract

4. The familial conjugated hyperbilirubinemias. Semin Liver Dis. 1994 Nov;14(4):386-94. Abstract

5. Pascasio FM, de la Fuenta D. Rotor-Manahan-Florentin syndrome: clinical and genetic studies. Phil J Int Med. 1969;7:151-7.

6. Vest MF, Kaufmann HJ, Fritz E. Chronic non-haemolytic jaundice with conjugated bilirubin in the serum and normal histology: a case study. Arch Dis Child. 1960;36:600-4.Full text  Abstract

7. Fretzayas A, Koukoutsakis P, Moustaki M, et al. Coinheritance of Rotor syndrome, G-6-PD deficiency, and heterozygous beta thalassemia: a possible genetic interaction. J Pediatr Gastroenterol Nutr. 2001;33:211-3.Full text  Abstract

8. Zimniak P. Dubin-Johnson and Rotor syndromes: molecular basis and pathogenesis. Semin Liver Dis. 1993;13:248-60. Abstract

9. Wolpert E, Pascasio FM, Wolkoff AW. Abnormal sulfobromophthalein metabolism in Rotor's syndrome and obligate heterozygotes. N Engl J Med. 1977;296:1099-1101. Abstract

10. van de Steeg E, Stránecký V, Hartmannová H, et al. Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J Clin Invest. 2012;122:519-28.Full text  Abstract

11. Tipping E, Ketterer B. The role of intracellular proteins in the transport and metabolism of lipophilic compounds. In: Blaver G, Sund H, eds. Transport by proteins. Berlin: Walter de Gruyter & Co.; 1978:369.

12. Adachi Y, Yamamoto T. Partial defect in hepatic glutathione S-transferase activity in a case of Rotor's syndrome. Gastroenterol Jpn. 1987;22:34-8. Abstract

13. Wolkoff AW, Ketley JN, Waggoner JG, et al. Hepatic accumulation and intracellular binding of conjugated bilirubin. J Clin Invest. 1978;61:142-9.Full text  Abstract

14. Zimniak P. Dubin-Johnson and Rotor syndromes: molecular basis and pathogenesis. Semin Liver Dis. 1993;13:248-260. Abstract

15. Fretzayas A, Koukoutsakis P, Moustaki M, et al. Coinheritance of Rotor syndrome, G-6-PD deficiency, and heterozygous beta thalassemia: a possible genetic interaction. J Pediatr Gastroenterol Nutr. 2001;33:211-213.Full text  Abstract

16. Kwo PY, Cohen SM, Lim JK. ACG clinical guideline: evaluation of abnormal liver chemistries. Am J Gastroenterol. 2017 Jan;112(1):18-35.Full text  Abstract

17. Paré P. Congenital hyperbilirubinemias. In: Thomson ABR, Shaffer EA, eds. First principles of gastroenterology, Chapter 13 - section 5. 5th ed. http://www.cag-acg.org (last accessed 10 Oct 2016).Full text

18. Kagawa T, Oka A, Kobayashi Y, et al. Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype. Hum Mutat. 2015 Mar;36(3):327-32. Abstract

19. Jirsa M, Knisely AS, Schinkel A, et al. Rotor Syndrome. 2012 Dec 13 [updated 2019 Jul 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2019.Full text

20. American College of Medical Genetics and Genomics. Five things physicians and patients should question. Choosing Wisely, an initiative of the ABIM Foundation. 2021​ [internet publication].Full text

21. Fretzayas AM, Garoufi AI, Moutsouris CX, et al. Cholescintigraphy in the diagnosis of Rotor syndrome. J Nucl Med. 1994;35:1048-50.Full text  Abstract

22. Bar-Meir S, Baron J, Seligson U, et al. 99mTc-HIDA cholescintigraphy rotor in Dubin-Johnson syndromes. Radiology. 1982 Mar;142(3):743-6. Abstract

23. The familial conjugated hyperbilirubinemias. Semin Liver Dis. 1994;14:386-394. Abstract

24. Summerfield JA, Scott J, Berman M, et al. Benign recurrent intrahepatic cholestasis: studies of bilirubin kinetics, bile acids, and cholangiography. Gut. 1980 Feb;21(2):154-60. Abstract