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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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Bibliografski detalji
Glavni autori: Nagappa, Madhu, Bindu, Parayil S., Adwani, Sikandar, Seshagiri, Sangeeta K., Saini, Jitender, Sinha, Sanjib, Taly, Arun B.
Format: Artigo
Jezik:Inglês
Izdano: Medknow Publications & Media Pvt Ltd 2014
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3992748/
https://ncbi.nlm.nih.gov/pubmed/24753676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0972-2327.128574
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