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tangier disease/astènia
L'enllaç es desa al porta-retalls
5 resultats
Tangier disease may cause early onset of atherosclerotic cerebral infarction: A case report.
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BACKGROUND
The present study explored the relationship between the adenosine triphosphate (ATP)-binding cassette A1 (ABCA1) gene, atherosclerosis, and cerebral infarction. The diagnosis and treatment ideas of stroke caused by Tangier disease via the summary of the diagnosis and treatment process of
Peripheral neuropathy in Tangier disease: A literature review and assessment.
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Tangier disease (TD) (OMIM#205400) is a rare cause of inherited metabolic neuropathies characterized by marked deficiency of high-density lipoproteins and accumulation of cholesterol esters in various tissue resulting from reverse cholesterol transport deficiency. We report a case of a patient with
An uncommon cause of bifacial weakness and non-length-dependent demyelinating neuropathy.
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Tangier disease is a rare metabolic disorder that causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle-aged gentleman of Tangier disease who was initially diagnosed as leprosy and treated with antileprosy
Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy.
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Tangier disease is an autosomal recessive disorder characterized by an abnormal accumulation of cholesterol esters in various organs secondary to adenotriphosphate binding cassette transporter A-1 (ABCA-1) transporter deficiency and disrupted reverse cholesterol transport. It causes neuropathy in
Facial onset sensory and motor neuronopathy (FOSMN syndrome): a novel syndrome in neurology.
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A 'syringomyelia-like' syndrome has been infrequently reported in neurological disorders such as Tangiers disease and lepromatous leprosy. This study reports a novel 'syringomyelia-like' syndrome in four adult male patients, which we have termed facial onset sensory and motor neuronopathy, or FOSMN
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