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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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Detalles Bibliográficos
Autores principales:	Nagappa, Madhu, Bindu, Parayil S., Adwani, Sikandar, Seshagiri, Sangeeta K., Saini, Jitender, Sinha, Sanjib, Taly, Arun B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992748/ https://www.ncbi.nlm.nih.gov/pubmed/24753676 http://dx.doi.org/10.4103/0972-2327.128574

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