نتایج جستجو برای: wilson disease
تعداد نتایج: 1505835 فیلتر نتایج به سال:
Wilson disease is an autosomal recessive disorder characterized by copper accumulation in the liver, brain, kidneys, and cornea due to inadequate biliary copper excretion. It should be considered especially in young patients who have findings of liver disease with unexplained etiology. Clinical presentation of the disease can be variable, and different types of parenchymal changes of the liver ...
A. Fallah MD Tel : +98 21 55414063 Fax : +98 21 22253631 Email : [email protected] Abstract Objective Wilson disease (WD) is an inherited copper metabolism dysfunction disease characterized by cirrhosis and CNS findings. Wilson disease is important because it is fatal if not recognized and treated. Our Goal of study is to investigate the clinical signs and symptoms, lab results and other rele...
PURPOSE Menkes and Wilson diseases are associated with retinal degeneration. The Menkes and Wilson genes are homologous copper transporters, but differences in their expression pattern lead to different disease manifestations. To determine whether the Wilson and Menkes genes may act locally in the retina, this study was undertaken to assess retinal Wilson and Menkes expression and localization....
BACKGROUND & AIMS Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment. Little is known about the mechanisms that contribute to the different phenotypes of the disease. METHODS We analyzed 28 varian...
An example of unipolar induction is a slab of material with (relative) permittivity and (relative) permeability μ that is immersed in a uniform external magnetic field H0 parallel to the plane of the slab, such that if the slab has velocity v perpendicular to H0 but also in the plane of the slab, a nonzero voltage difference V is detected between sliding contacts (fixed in the laboratory) on op...
BACKGROUND Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by allelic variants in ATP7B gene. More than 500 distinct variants have been reported, the most common WD causing allelic variant in the patients from Central, Eastern, and Northern Europe is H1069Q. METHODS All Latvian patients with clinically confirmed WD were screened for the most common mutation ...
In the present study, the heat of detonation of high energy compounds with CaHbNcOd formula was obtained according to Kistiakowski-Wilson rules. Comparison of these results with experimental date, group additivity method and Kamlet method shows that the values of heat detonation based on the Kistiakowski-Wilson rules are more accurate. In the following, the values of detonation velocity and de...
Wilson disease is an autosomal recessive disorder of hepatic copper metabolism caused by mutations in a gene encoding a copper-transporting P-type ATPase. To elucidate the function of the Wilson protein, wild-type and mutant Wilson cDNAs were expressed in a Menkes copper transporter-deficient mottled fibroblast cell line defective in copper export. Expression of the wild-type cDNA demonstrated ...
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