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SM ISO690:2012 TCACIUC, Eugen, PODUREAN, Mariana, TCACIUC, Angela. Management of Crigler-Najjar syndrome. In: Medicine and Pharmacy Reports, 2021, vol. 94, supl. nr. 1, pp. 64-67. ISSN 2602-0807. DOI: https://doi.org/10.15386/mpr-2234 |
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Medicine and Pharmacy Reports | ||||||
Volumul 94, Supliment nr. 1 / 2021 / ISSN 2602-0807 /ISSNe 2668-0572 | ||||||
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DOI:https://doi.org/10.15386/mpr-2234 | ||||||
Pag. 64-67 | ||||||
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Crigler-Najjar syndrome is a rare autosomal recessive inherited non-hemolytic unconjugated hyperbilirubinemia caused by UDP-glucuronosyltransferase deficiency. There are two forms of this disorder. Type 1 disease is associated with severe jaundice and neurologic impairment due to bilirubin encephalopathy that can result in permanent neurologic sequelae. Type 2 disease is associated with a lower serum bilirubin concentration and affected patients survive into adulthood without neurologic impairment. Currently, liver transplantation is the only available therapeutic method for these patients. Developing new curative approaches is a clinical need. |
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Cuvinte-cheie Crigler-Najjar syndrome, Diagnosis, therapy |
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