Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuro...
Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy
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Publisher
India: Medknow Publications and Media Pvt. Ltd
Journal title
Language
English
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Publication information
Publisher
India: Medknow Publications and Media Pvt. Ltd
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Scope and Contents
Contents
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 half of the affected individuals. We present the cli...
Alternative Titles
Full title
Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4782534
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4782534
Other Identifiers
ISSN
0972-2327
E-ISSN
1998-3549
DOI
10.4103/0972-2327.175436