Coexistence of hereditary spherocytosis with SPTB P.Trp1150 gene variant and Gilbert syndrome: A case report and literature review [PDF]
A congenital protein anomaly in the erythrocyte membrane skeleton causes a hereditary haemolytic illness known as hereditary spherocytosis (HS). The primary characteristic of HS is an increase in the number of tiny spherical red blood cells in the ...
Chi Changwei +5 more
doaj +2 more sources
An Unusual Presentation of Gilbert Syndrome. [PDF]
ABSTRACT Unconjugated hyperbilirubinemia arises from elevated bilirubin production, impaired hepatic uptake, or reduced bilirubin conjugation, the latter often attributed to hereditary factors such as Gilbert syndrome involving mutations in the diphosphoglucuronate-glucuronosyltransferase 1A1 gene.
Chilakala A +3 more
europepmc +3 more sources
Case Report: Identification of a novel pathogenic UGT1A1 mutation in a Chinese patient with Gilbert syndrome [PDF]
Gilbert syndrome (GS) is a genetic disorder caused by mutations in the UGT1A1 gene. It is characterized by intermittent non-hemolytic unconjugated hyperbilirubinemia.
Chenyu Zhao, Chenyu Zhao, Hui Huang
doaj +2 more sources
A Case of Adult Hereditary Spherocytosis Concomitant with Gilbert Syndrome Caused by Mutations in SPTB and UGT1A1 [PDF]
Yang Gou,1,2 Ping Wang,1,2 Wucheng Yang,1,2 Yimei Feng,1,2 Xiangui Peng,1,2 Hong Liu,1,2 Shuiqing Liu,1,2 Xi Zhang1,2 1Medical Center of Hematology, Xinqiao Hospital of Army Medical University, Chongqing, 400037, People’s Republic of China; 2Chongqing ...
Gou Y +7 more
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Pregnancy with Gilbert Syndrome – A Case Report [PDF]
A primigravida presented to us at 32 weeks of gestation with vomiting, myalgia and jaundice. On examination she had icterus, she was dehydrated, uterus was corresponding to dates and the fetal heart rate was good.
Mini Mohan +2 more
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Diagnostic criteria and contributors to Gilbert’s syndrome [PDF]
Hyperbilirubinemia is a well-known condition in the clinical setting; however, the causes of elevated serum bilirubin are diverse, as are the clinical ramifications of this condition. For example, diagnoses of individuals vary depending on whether they exhibit an unconjugated or conjugated hyperbilirubinemia.
Nazlisadat Seyed Khoei +2 more
exaly +8 more sources
Commentary: Case Report: Hyperbilirubinemia in Gilbert Syndrome Attenuates Covid-19-Induced Metabolic Disturbances [PDF]
Angelo Minucci +3 more
doaj +2 more sources
Gilbert syndrome as a risk factor for the development of cholelithiasis in children [PDF]
Introduction/Objective. Gilbert syndrome (GS) is the most common hereditary hyperbilirubinemia. As well as mild unconjugated hyperbilirubinemia, it is characterized by the excess of bilirubin monoglucuronide over diglucuronide in the bile and thus ...
Radlović Vladimir +9 more
doaj +1 more source

