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

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 ha...

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Detalles Bibliográficos
Autores principales: Nagappa, Madhu, Taly, Arun B., Mahadevan, Anita, Pooja, M., Bindu, P. S., Chickabasaviah, Y. T., Gayathri, N., Sinha, Sanjib
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782534/
https://www.ncbi.nlm.nih.gov/pubmed/27011649
http://dx.doi.org/10.4103/0972-2327.175436