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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 neuro...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4782534

Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy

About this item

Full title

Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy

Publisher

India: Medknow Publications and Media Pvt. Ltd

Journal title

Annals of the Indian Academy of Neurology, 2016-01, Vol.19 (1), p.137-139

Language

English

Formats

Publication information

Publisher

India: Medknow Publications and Media Pvt. Ltd

More information

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

Identifiers

Primary Identifiers

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

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