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View Article and Find Full Text PDF[Research progresses in gene therapy for hepatolenticular degeneration].
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Hepatolenticular degeneration, also known as Wilson's disease, is a type of autosomal recessive genetic disorder of copper metabolism. The causative gene, ATP7B, is located on the long arm of chromosome 13 and encodes a P-type ATPase that is involved in copper transport. Pathogenic mutations in the ATP7B gene sequence lead to the diminished or lost function of the ATP7B protein, resulting in pathological copper deposition in organs such as the liver, brain, kidneys, and cornea.
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Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA 94304, USA.
Co-pathology is frequent in Lewy body disease, which includes clinical diagnoses of both Parkinson's disease and dementia with Lewy bodies. Measuring concomitant pathology can improve clinical and research diagnoses and prediction of cognitive trajectories. Tau PET imaging may serve a dual role in Lewy body disease by measuring cortical tau aggregation as well as assessing dopaminergic loss attributed to binding to neuromelanin within substantia nigra.
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Division of Informatics, Imaging & Data Sciences, The University of Manchester, Manchester, UK.
Aims: The aims of this study were to develop an automatic system capable of calculating four radiological measurements used in the diagnosis and monitoring of cerebral palsy (CP)-related hip disease, and to demonstrate that these measurements are sufficiently accurate to be used in clinical practice.
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Dr Mousumi Saha, Assistant Professor, Fetomaternal Medicine Subspeciality (FCPS) Course Student, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh; E-mail:
Wilson's disease is an autosomal recessive disorder that affects copper transport due to deficiency of ceruloplasmin and causes deposition of copper mainly in the liver, brain and cornea. It causes hepatic and/or neuropsychiatric manifestations. This copper deposition causes cirrhosis of the liver, encephalopathy and liver failure.
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