Results 31 to 40 of about 5,947 (218)

Gilbert’s Syndrome: Terminology, Epidemiology, Genetics, Pathogenesis (Part I)

open access: yesZdorovʹe Rebenka, 2016
The aim of the review was the analysis of the literature about the prevalence, etiology, genetics and pathogenesis of Gilbert’s syndrome (GS). The scientific literature regarding GS with the keywords «Gilbert's syndrome», «hyperbilirubinemia», «uridine ...
T.V. Sorokman   +2 more
doaj   +1 more source

Adverse events in bedaquiline‐ and pretomanid‐based regimens for drug‐resistant tuberculosis from trial, implementation and pharmacovigilance studies

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract The availability of safety data, particularly concerning adverse events (AEs) associated with the new shorter regimen for drug‐resistant tuberculosis (TB) containing a bedaquiline–pretomanid‐based regimen, is still limited. This systematic review aims to provide a comprehensive and updated analysis of AEs related to this new regimen by ...
Nisa Maria   +4 more
wiley   +1 more source

Coexistence of hereditary spherocytosis with SPTB P.Trp1150 gene variant and Gilbert syndrome: A case report and literature review

open access: yesOpen Life Sciences
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   +1 more source

Prevalence and outcome of cholelithiasis in children with sickle cell disease at King Saud Medical City, Saudi Arabia

open access: yesJournal of Applied Hematology, 2021
BACKGROUND: Sickle cell disease (SCD) is one of the common hereditary blood diseases in Saudi Arabia. The hepatobiliary system is one of the common organs to be affected either directly from the sickling process or indirectly as a result of chronic ...
Adel Homoud Almudaibigh   +2 more
doaj   +1 more source

UGT1A1 genotype testing for irinotecan: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract Irinotecan, a topoisomerase I inhibitor, is available as both non‐pegylated and pegylated formulations. The non‐pegylated formulation is licensed for use in advanced colorectal cancer either in combination with other agents or as monotherapy.
Dharmisha Chauhan   +24 more
wiley   +1 more source

Primary Biliary Cirrhosis and Hemolytic Anemia Confusing Serum Bilirubin Levels

open access: yesCanadian Journal of Gastroenterology, 2000
Hemolysis is observed in more than 50% of patients with cirrhosis. However, there has been little documention of the association of primary biliary cirrhosis with autoimmune hemolytic anemia.
M Brackstone, Cameron N Ghent
doaj   +1 more source

Pediatric Developmental Safety Assessment: Are We Ready for the Next Thalidomide?

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Pediatric drug development has achieved remarkable success in the last 20 years with over 1,000 products studied in pediatric patients. This success has been driven in part by an increased understanding of pediatric disease processes. The aspect that has been largely overlooked is the potential adverse effect of new drugs on pediatric developmental ...
Gilbert J. Burckart   +6 more
wiley   +1 more source

p.Cys223Tyr mutation causing Crigler–Najjar syndrome type II

open access: yesJGH Open, 2020
Crigler–Najjar syndrome (CNs) is a rare hereditary unconjugated hyperbilirubinemia caused by mutations in the bilirubin Uridine (UDP) glucuronosyltransferase family 1 member A1 (UGT1A1, ENSG00000241635) gene.
Qing‐Fang Xiong   +2 more
doaj   +1 more source

Defective biliary secretion of bile acid 3-O-glucuronides in rats with hereditary conjugated hyperbilirubinemia.

open access: yesJournal of Lipid Research, 1989
Biliary secretion of bile acid glucuronides was studied in control rats and in rats with a congenital defect in hepatobiliary transport of organic anions (GY rats).
F Kuipers   +6 more
doaj   +1 more source

Early indicators of neonatal‐onset hereditary thrombotic thrombocytopenia purpura

open access: yesResearch and Practice in Thrombosis and Haemostasis, 2022
Background Neonatal‐onset hereditary thrombotic thrombocytopenia purpura (hTTP) is often misdiagnosed due to its rarity. It begins with jaundice, similar to infants with ABO incompatibility.
Jing Liu   +11 more
doaj   +1 more source

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