Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia

Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia

Abetalipoproteinemia is an uncommon cause of ataxia and retinitis pigmentosa (RP). Most of the neurological and ocular manifestations occur secondary to deficiency syndromes that is consequent to fat malabsorption from the small intestine. In this report, we have described the phenotype of a young a...

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Bibliographic Details
Main Authors: Madhu Nagappa, Parayil S Bindu, Sikandar Adwani, Sangeeta K Seshagiri, Jitender Saini, Sanjib Sinha, Arun B Taly
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2014-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
Abetalipoproteinemia
acanthocytes
dorsal column hyperintensity
magnetic resonance imaging
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2014;volume=17;issue=1;spage=113;epage=116;aulast=Nagappa

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http://www.annalsofian.org/article.asp?issn=0972-2327;year=2014;volume=17;issue=1;spage=113;epage=116;aulast=Nagappa

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