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10.1038/pr.2015.247

http://scihub22266oqcxt.onion/10.1038/pr.2015.247
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C4821713!4821713 !26595536
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suck abstract from ncbi


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pmid26595536
      Pediatr+Res 2016 ; 79 (3 ): 378-86
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  • Inherited disorders of bilirubin clearance #MMPMID26595536
  • Memon N ; Weinberger BI ; Hegyi T ; Aleksunes LM
  • Pediatr Res 2016[Mar]; 79 (3 ): 378-86 PMID26595536 show ga
  • Inherited disorders of hyperbilirubinemia may be caused by increased bilirubin production or decreased bilirubin clearance. 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, breast milk jaundice), (iii) bilirubin excretion into bile (Dubin-Johnson syndrome), or (iv) conjugated bilirubin re-uptake (Rotor syndrome). In this review, the molecular mechanisms and clinical manifestations of these conditions are described, as well as current approaches to diagnosis and therapy.
  • |Animals [MESH]
  • |Bile/chemistry [MESH]
  • |Bilirubin/*blood/chemistry/metabolism [MESH]
  • |Crigler-Najjar Syndrome/genetics [MESH]
  • |Gilbert Disease/genetics [MESH]
  • |Glucuronic Acid/chemistry [MESH]
  • |Glucuronosyltransferase/genetics [MESH]
  • |Humans [MESH]
  • |Hyperbilirubinemia, Hereditary/diagnosis/*genetics [MESH]
  • |Hyperbilirubinemia, Neonatal/diagnosis/*genetics [MESH]
  • |Jaundice, Chronic Idiopathic/genetics [MESH]


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