Clinical and genetic heterogeneity in Wilson disease - A review
نویسندگان
چکیده
منابع مشابه
wilson disease and molecular genetic diagnosis
wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to over 50 years. the primary consequence for most of those with wd is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disea...
متن کاملClinical and genetic analysis of pediatric patients with Wilson disease.
BACKGROUND/AIMS Wilson disease (WD, MIM# 277900) is an autosomal recessive disorder of copper transport resulting from the defective function of a copper transporting P-type ATPase. Detecting mutations and single nucleotide polymorphisms (SNPs) of the ATP7B gene in Turkish pediatric WD patients (n=32) and controls (n=52) is the aim of this research. MATERIALS AND METHODS For screening mutatio...
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Frontotemporal dementia (FTD) is the second most common young-onset dementia and is clinically characterised by progressive behavioural change, executive dysfunction and language difficulties. Three clinical syndromes, behavioural variant FTD, semantic dementia and progressive non-fluent aphasia, form part of a clinicopathological spectrum named frontotemporal lobar degeneration (FTLD). The cla...
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...
متن کاملGenetic Heterogeneity in Human Disease
Strong evidence suggests that rare mutations of severe effect are responsible for a substantial portion of complex human disease. Evolutionary forces generate vast genetic heterogeneity in human illness by introducing many new variants in each generation. Current sequencing technologies offer the possibility of finding rare disease-causing mutations and the genes that harbor them.
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ژورنال
عنوان ژورنال: Journal of Medical and Scientific Research
سال: 2015
ISSN: 2321-1326,2394-112X
DOI: 10.17727/jmsr.2015/3-037