NEUROLOGICAL INVOLVEMENT WITHOUT HEPATIC DERANGEMENT IN WILSON DISEASE
نویسندگان
چکیده
منابع مشابه
Wilson's Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings.
Wilson's Disease (WD) is a rare, autosomal, recessive, inborn error of the copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser - Fleischer ring. Here, we a...
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The endoplasmic reticulum (ER) is a morphologically dynamic organelle containing different membrane subdomains with distinct cellular functions. Numerous observations have revealed that ER stress response induced by disturbed ER homeostasis is linked to various neurological/neurodegenerative disorders. In contrast, recent findings unveil that ER structural derangements are linked to the progres...
متن کاملneurological and other manifestations of wilson disease; 1998-2005
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 relevant matters in our patients in order to obtain a better understanding of this potentially let...
متن کاملSubclinical neurological involvement in Behçet's disease.
CONTEXT Behçet's disease (BD) is a multisystem inflammatory disorder with unknown etiology characterized by recurrent oral and genital aphthous ulcers and uveitis. Behçet's disease can affect the central nervous system. AIMS We aimed to investigate subclinical neurological involvement in patients who were suffering from BD and who had no neurological symptoms. SETTINGS AND DESIGN A total of...
متن کاملThe Clinical Manifestations, Treatment Efficacy and Adverse Drug Reactions in 62 Iranian Child with Wilson Disease
Introduction: The Wilson disease is an autosomal recessive disease in which the liver, central nervous system, eyes, blood and other parts of the body involved. Timely diagnosis and appropriate treatment of the disease requires awareness of the clinical presentations of this disease in children.Methods: This case series study included 62 patients with Wilson disease who admitted to children's M...
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ژورنال
عنوان ژورنال: Journal of Evidence Based Medicine and Healthcare
سال: 2016
ISSN: 2349-2562,2349-2570
DOI: 10.18410/jebmh/2016/217