نتایج جستجو برای: wilson disease
تعداد نتایج: 1505835 فیلتر نتایج به سال:
PURPOSE To describe abnormal white matter in the brain on MR in Wilson disease and to compare with anatomic location of white matter tracts. METHODS Forty-six patients with Wilson disease were examined. Axial T1-weighted inversion-recovery, axial T2-weighted spin-echo, and coronal T2*-weighted gradient-echo MR images were performed. Imaging studies were compared with clinical data. RESULTS ...
BACKGROUND AND PURPOSE Although brain MR imaging findings in adult Wilson disease have been described in considerable detail, a paucity of information currently exists regarding brain MR imaging findings in pediatric Wilson disease. The purpose of this study was to analyze the brain MR imaging findings in Wilson disease of childhood at the initial stage and during follow-up after treatment and ...
BACKGROUND/AIMS Videodensitometry is a feasible noninvasive ultrasound tissue characterization method allowing early detection of myocardial changes. This study aimed to investigate ultrasonic backscatter properties of the myocardium in Wilson disease patients. MATERIALS AND METHODS We compared cardiologically asymptomatic Wilson disease patients (W group) (n=18) with age-matched (26.7±9.6 ye...
BACKGROUND Wilson disease (WD) is an autosomal recessive disorder. The WD gene, ATP7B, encodes a copper-transporting ATPase involved in the transport of copper into the plasma protein ceruloplasmin and in excretion of copper from the liver. ATP7B mutations cause copper to accumulate in the liver and brain. OBJECTIVES We examined the ATP7B mutation spectrum in Wilson disease patients in Iran. ...
BACKGROUND Wilson disease is a rare disorder of copper metabolism due to mutation in ATP7B gene. Proper counseling of patients with Wilson disease, and their families necessitates finding mutation in ATP7B gene. Finding mutations in ATP7B gene with 21 exons, and more than 500 mutations is expensive and time-consuming. OBJECTIVES The aim of this study was to provide a simple multiplex amplific...
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