Results 51 to 60 of about 84,845 (281)
Prevalence of Gaucher’s Disease in a Hematology Outpatient Clinic
Journal of Contemporary Medicine, 2020 Objective: Gaucher’s disease (GD) is a disease caused by glucocerebrosidase enzyme deficiency and characterized by glucoceramide accumulation in the reticuloendothelial system.
Didar Yanardağ Açık, Bilal Aygun
doaj +1 more source
Frontiers in Genetics, 2022 Objective: Our study aims to summarize and analyze the clinical characteristics of transient infantile hypertriglyceridemia (HTGTI) and variants in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene and the effect of HTGTI on the protein structure of ...
Jun Wang +11 more
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective To evaluate the efficacy and safety of baricitinib in pediatric patients with active juvenile idiopathic arthritis–associated uveitis (JIA‐U) or chronic anterior antinuclear antibody–positive uveitis, who had an inadequate response to methotrexate (MTX) or biologic disease‐modifying antirheumatic drugs (bDMARDs).
Athimalaipet V. Ramanan +7 more
wiley +1 more source
A Rare and Intriguing Case of Wilson's Disease Initially Suspected of Systemic Lupus Erythematosus
Clinical Case ReportsWhen systematic lupus erythematosus‐like lab results (e.g., positive anti‐double‐stranded DNA antibody, low complement component 3) are inconsistent with physical findings, such as the absence of arthritis or nephritis, clinicians should consider ...
Mandana Khodashahi +6 more
doaj +1 more source
Dexamethasone-induced hepatomegaly and steatosis in larval zebrafish.
Journal of Toxicological Sciences, 2017 Fish hepatobiliary syndrome, characterized by hepatomegaly and fatty liver, has been frequently reported in many cultured fish species and has caused a dramatic economic loss in China.
Guo-Jun Yin +6 more
semanticscholar +1 more source
Advanced Science, EarlyView.This research identified cardiac amyloid pathology, neurotrophic factor depletion, and reduced myocardial nerve function in a transgenic model of cerebral amyloidosis (Tg2576), Aβ‐challenged cardiomyocytes, and in human AD heart tissue. These findings carry significant diagnostic and therapeutic implications, emphasizing the role of neuro‐signaling ...
Andrea Elia +6 more
wiley +1 more source
The Hepatocellular Hypoxia Criteria:2’Nitroimidazole Effect on Hepatocyte Carbohydrate Metabolizing Enzymes [PDF]
, 2008 Aim: to understand the 2’-nitroimidazole induced hypoxia and liver cell interaction, we proposed a “Hapatocellular Hypoxia Criteria”.
Rakesh Sharma
core +1 more source
Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase. [PDF]
, 2016 Taliglucerase alfa is the first available plant cell-expressed human recombinant therapeutic protein. It is indicated for treatment of patients with type 1 Gaucher disease (GD) in adult and pediatric patients in several countries.
Amato, Dominick J +9 more
core +2 more sources
Deubiquitinase YOD1: the potent activator of YAP in hepatomegaly and liver cancer
BMB Reports, 2017 Advances in the understanding of the Hippo signaling as a key regulatory pathway of proliferation and apoptosis have provided mechanical insights for controlling organ size and tumorigenicity.
Youngeun Kim, E. Jho
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson +3 more
wiley +1 more source