Articles with "tangier disease" as a keyword



The iPSC Awakens ANGPTL3 in Tangier Disease

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Published in 2017 at "EBioMedicine"

DOI: 10.1016/j.ebiom.2017.04.004

Abstract: Patients with genetic mutation of ATP-binding Cassette Transporter A1 (ABCA1), commonly known as Tangier Disease (TD), can be characterized by elevated levels of plasma triglycerides (hypertriglyceridemia) and low plasma high-density lipoprotein (HDL) levels. With current… read more here.

Keywords: ipsc awakens; abca1; hepatic abca1; hdl ... See more keywords
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A case of mesenteric panniculitis in a patient with Tangier disease.

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Published in 2021 at "Journal of clinical lipidology"

DOI: 10.1016/j.jacl.2021.12.002

Abstract: Mesenteric panniculitis is a rare disease caused by idiopathic inflammation of adipose tissue, most commonly affecting the mesentery of the small bowel. We present a unique case of mesenteric panniculitis in a patient with Tangier… read more here.

Keywords: panniculitis patient; case mesenteric; mesenteric panniculitis; tangier disease ... See more keywords
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Peripheral neuropathy in Tangier disease: A literature review and assessment

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Published in 2018 at "Journal of the Peripheral Nervous System"

DOI: 10.1111/jns.12265

Abstract: 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… read more here.

Keywords: neuropathy subtype; peripheral neuropathy; review; tangier disease ... See more keywords