| DC Field | Value | Language |
|---|
| dc.contributor.author | Ciumac, Elena | - |
| dc.date.accessioned | 2020-07-01T16:16:54Z | - |
| dc.date.available | 2020-07-01T16:16:54Z | - |
| dc.date.issued | 2018 | - |
| dc.identifier.citation | CIUMAC, Elena. High serum unconjugated bilirubin levels in a patient with mutations in the UGT1A1 gene – clinical case presentation. In: MedEspera: the 7th Internat. Medical Congress for Students and Young Doctors: abstract book. Chișinău: S. n., 2018, p. 22-23. | en_US |
| dc.identifier.uri | http://repository.usmf.md/handle/20.500.12710/10799 | - |
| dc.description | Nicolae Testemitanu State University of Medicine and Pharmacy of the Republic of Moldova | en_US |
| dc.description.abstract | Background. The UGT1A1 gene plays a significant role in the glucuronidation of bilirubin, and
the mutations of this gene lead to limitations in the synthesis of the glucuronyltransferase
enzyme, which contributes to the increase in free serum bilirubin. This clinical condition is
called Gilbert's syndrome. The patient with Gilbert syndrome has no clinical manifestations until
the second decade of life. Scientific studies demonstrate that free serum bilirubin in patients with
Gilbert syndrome is almost entirely unconjugated. We present the case study of a 17-year-old
patient with Gilbert's syndrome, confirmed by molecular genetics tests. | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | MedEspera | en_US |
| dc.subject | Gilbert's syndrome | en_US |
| dc.subject | hyperbilirubinemia | en_US |
| dc.subject | jaundice | en_US |
| dc.subject | gene mutation | en_US |
| dc.title | High serum unconjugated bilirubin levels in a patient with mutations in the UGT1A1 gene – clinical case presentation | en_US |
| dc.type | Article | en_US |
| Appears in Collections: | MedEspera 2018
|
