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Dubin-Johnson Syndrome as Differential Diagnosis for Neonatal Cholestasis.
Junge N, Goldschmidt I, Wiegandt J, Leiskau C, Mutschler F, Laue T, Ohlendorf J, Stalke A, Hartleben B, Stindt J, Keitel V, Baumann U, Pfister ED. Junge N, et al. J Pediatr Gastroenterol Nutr. 2021 May 1;72(5):e105-e111. doi: 10.1097/MPG.0000000000003061. J Pediatr Gastroenterol Nutr. 2021. PMID: 33534365
OBJECTIVES: Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder in which multidrug-resistance-associated protein 2 (MRP2) deficiency causes an excretion disorder of conjugated bilirubin from hepatocytes into bile canaliculi. ...
OBJECTIVES: Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder in which multidrug-resistance-associated pr …
Transcriptional regulation of hepatobiliary transport systems in health and disease: implications for a rationale approach to the treatment of intrahepatic cholestasis.
Wagner M, Trauner M. Wagner M, et al. Ann Hepatol. 2005 Apr-Jun;4(2):77-99. Ann Hepatol. 2005. PMID: 16010241 Free article. Review.
Hereditary or acquired defects of these transporters may cause or maintain cholestasis and jaundice under various clinical conditions including progressive familial intrahepatic cholestasis (PFIC) 1-3 or its milder forms, benign recurrent intrahepatic cholestasis (BRIC) 1 and 2 , …
Hereditary or acquired defects of these transporters may cause or maintain cholestasis and jaundice under various clinical conditions includ …
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.
Hahn JW, Lee H, Shin M, Seong MW, Moon JS, Ko JS. Hahn JW, et al. J Gastroenterol Hepatol. 2024 May;39(5):964-974. doi: 10.1111/jgh.16505. Epub 2024 Feb 7. J Gastroenterol Hepatol. 2024. PMID: 38323732
RESULTS: Of the total 148 patients examined, 49 (33.1%) were received a confirmed genetic diagnosis, including 14 with Alagille syndrome, 14 with neonatal intrahepatic cholestasis caused by citrin deficiency, 7 with Dubin-Johnson syndrome, 5 with arthr …
RESULTS: Of the total 148 patients examined, 49 (33.1%) were received a confirmed genetic diagnosis, including 14 with Alagille syndrome