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PURPOSE It is well known that patients with Wilson's disease (WD) suffer copper metabolism disorder. However, recent studies point to an additional iron metabolism disorder in WD patients. The purpose of our study was to examine susceptibility-weighted imaging (SWI) manifestations of WD in the brains of WD patients. METHODS A total of 33 patients with WD(More)
OBJECTIVE To study the clinical and genetic characteristics of twins and siblings affected with Wilson's disease (WD). METHODS Clinical data and blood samples were collected from the subjects after informed consent was obtained. Genomic DNA was extracted and potential mutations in the exons in ATP7B gene were detected with PCR-DNA sequencing. Short tandem(More)
OBJECTIVE To analyze a case of cerebrotendinous xanthomatosis (CTX) with mental retardation as the initial neurological symptom. METHODS Medical imaging, histopathological assay and genetic testing were carried out to analyze the patient. RESULTS Neurological manifestations of the 27-year-old male patient were initiated by mental retardation and(More)
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