Results 91 to 100 of about 1,401 (195)

Effect of gilbert's syndrome associated polymorphic alleles (rs8175347 and rs4148323) of UDP-glucuronyl transferase on serum bilirubin level

, 2020
Background: The most common mutations in Gilbert's syndrome are associated with the promoter region of the gene (rs8175347) and the codon region in exon1 (rs4148323).
Joshaghani, H.R., Yaghmaei, B., Aliarab, A., Roshandel, G., Khoshnia, M., Ghaderian, S.M.H., Babaei, G.   +6 more
core  

Diagnosis of gilbert’s syndrome via pyrosequencing in clinical practice

Архивъ внутренней медицины, 2019
Relevance. Gilbert’s syndrome (GS) is a disease with an autosomal recessive type of inheritance caused by either impaired expression of the UGT1A1 gene, which encodes the isoform of the uridine-5-diphosphate glucuronosyltransferase (UDP-GTA1), or ...
L. I. Melnikova, L. Yu. Ilchenko, E. A. Dunaeva, M. V. Kozitsyna, O. P. Dribnokhodova, K. O. Mironov   +5 more
doaj   +1 more source

Marfan Syndrome: Regarding Two Cases

Revista Finlay, 2020
Marfan syndrome is an autosomal dominant genetic disorder, with a prevalence of 1 every 5,000-10,000 newborns, so it is classified as an uncommon disease.
Elsy Roxana Geroy Moya, María Quiñones Hernández, Anaelys Acosta Hernández   +2 more
doaj   +2 more sources

Correction of Venlafaxine- and Duloxetine-Induced Transaminase Elevations with Desvenlafaxine in a Patient with Gilbert's Syndrome

, 2010
Recent reviews have questioned whether the serotonin-norepinephrine reuptake inhibitor (SNRI) desvenlafaxine succinate offers any practical clinical advantages over existing SNRIs. The following case is one instance where it appears that this SNRI offers
S. Shalom Feinberg
core   +1 more source

Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome

BMC Pediatrics, 2018
Background Inherited unconjugated hyperbilirubinemia is caused by variants in the gene UGT1A1 leading to Gilbert’s syndrome and Crigler-Najjar syndrome types I and II.
Linda Gailite, Dmitrijs Rots, Ieva Pukite, Gunta Cernevska, Madara Kreile   +4 more
doaj   +1 more source

The implication of bilitranslocase function in the impaired rifamycin SV metabolism in Gilbert's syndrome

, 1985
The plasma disappearance rate and the increment in plasma unconjugated bilirubin after intravenous administration of 5.9 mumol of rifamycin SV (RSV)/kg body wt.
Tiribelli C, Baldini G, GENTILE, Sandro, Sottocasa GL, Lunazzi G, Persico M   +5 more
core   +1 more source

Gilbert's syndrome. [PDF]

British medical journal, 1968
  +7 more sources

Prolonged Hyperbilirubinemia in a Neonate with a Novel Mutation in the UDP-glucuronosyltransferase 1A1 Gene

, 2017
The total bilirubin value of a male infant was 385 mu mol/l on day 5. Liver function test results were normal and there was no evidence of sepsis and no hemolysis reaction.
Mu, Shu-Chi;Chen, Yi-Ling;Tsai, Li-Yi;Shih, Yung-Luen;Chen, En-Sung;Huang, Ching-Shan
core   +1 more source

Abstract P6-06-02: UGT1A1*28 and Breast Cancer: Increased Risk for Gilbert's Syndrome Patients

, 2010
Introduction: Estrogens are essential for the initiation and development of breast cancer (BC). Among the enzymes involved in conjugation and inactivation of estrogens and its metabolites, there is the UDP-glucuronosyltransferase 1A1 (UGT1A1 ...
ARF Francisco, DBD Gomes, RR Martini, SK Ono-Nita, MMT Souza, GAR Maciel, EC. Baracat, JCS Góes   +7 more
core   +1 more source

Perioperative Anaesthetic Management of a Patient of Gilbert’s Syndrome with Adult Congenital Heart Disease - A Rare Presentation

The Indian Anaesthetists' Forum, 2014
Gilbert's syndrome is a hereditary condition with the genetic mutation of the enzyme uridine diphosphate glucuronosyltransferase, characterized by intermittent jaundice in the absence of hemolysis or underlying liver disease.
Sambhunath Das, Neelam Agarwal
doaj