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Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
Wilson disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of copper in the liver and subsequently in the brain and other organs. On the basis of sequence homology toExpand
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Right Atrial Thrombi Complicating Use of Central Venous Catheters in Hemodialysis
Background There has been an increase in the use of central venous catheters for temporary hemodialysis access. In this report, we describe a case series of 12 patients on hemodialysis who developedExpand
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Right Atrial Thrombi Complicating use of Central venous Catheters in Hemodialysis
Background There has been an increase in the use of central venous catheters for temporary hemodialysis access. In this report, we describe a case series of 12 patients on hemodialysis who developedExpand
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Diastolic right-to-left shunting in a patient with atrial septal defect and pericardial tamponade.
We present the case of a patient with an atrial septal defect who presented with hypotension, hypoxia, and cyanosis as a result of pericardial tamponade. The classic findings of pulsus paradoxus andExpand
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Diagnosis of esophageal carcinoma because of findings on transesophageal echocardiography.
A patient in whom transesophageal echocardiography was performed to evaluate a possible source of cerebral embolization. The fact that the probe could not be passed easily beyond 35 cm from theExpand
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The enigma of occult mitral regurgitation in a patient with cardiogenic shock.
In patients with mitral regurgitation (MR), there is a high pressure gradient between the left ventricle (LV) and left atrium that Doppler echocardiography can easily detect. We present a case whereExpand
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Isolated Subclavian Artery Aneurysm: Evaluation by Transesophageal Echocardiography
A 50‐year‐old man was evaluated following a motor vehicle accident. Chest X‐ray showed a widened mediastinum. Transesophageal echocardiography was helpful in identifying the left subclavian arteryExpand
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