Hepatolenticular Degeneration: New Insights for the Healthcare Professional: 2011 Edition: ScholarlyPaper

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ScholarlyEditions, Jan 9, 2012 - Medical - 23 pages
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Hepatolenticular Degeneration: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Hepatolenticular Degeneration in a compact format.

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Contents

Current State of Wilsons disease Patients in Central Japan
Mutation analysis and characterization of alternative splice variants of the Wilsons disease gene ATP7B
Wilsons disease
Development of a highresolution melting method for the screening of Wilsons diseaserelated ATP7B gene mutations
Hepatocyte GP73 expression in Wilsons disease
Wilsons disease at a single cell level intracellular copper trafficking activates compartmentspecific responses in hepatocytes
Association of ATP7B mutation detection rate with biochemical characteristics in Korean patients with Wilsons disease
Copper and zinc in the serum urine and hair of patients with Wilsons disease treated with penicillamine and zinc
Truncating mutations in the Wilsons disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wi...
Reduced Expression of ATP7B Affected by Wilsons diseaseCausing Mutations Is Rescued by Pharmacological Folding Chaperones 4Phenylbutyrate ...
Functional analysis of mutations in the ATP loop of the Wilsons disease copper transporter ATP7B
Neurologic Wilsons disease
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