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Atypical Presentation of Tangier Disease—Expanding the Clinical Spectrum
Journal of Clinical Neuromuscular Disease, 2023Tangier disease is an autosomal recessive multisystem metabolic disorder with neuromuscular manifestations including peripheral neuropathy such as multifocal mononeuropathy or pseudosyringomyelia patterns.
Dipti Baskar +9 more
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Tangier disease: update for 2020.
Current Opinion in Lipidology, 2020PURPOSE OF REVIEW To appraise recent advances in our knowledge of the severe genetic HDL deficiency disorder, Tangier disease. RECENT FINDINGS While Tangier disease can cause premature atherosclerotic cardiovascular disease (ASCVD), new evidence ...
A. Hooper, R. Hegele, J. Burnett
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The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group
Journal of Pediatric Endocrinology & Metabolism (JPEM)Objectives Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death.
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