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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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Bibliografiska uppgifter
Huvudupphovsmän: Nagappa, Madhu, Bindu, Parayil S., Adwani, Sikandar, Seshagiri, Sangeeta K., Saini, Jitender, Sinha, Sanjib, Taly, Arun B.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Medknow Publications & Media Pvt Ltd 2014
Ämnen:
Länkar: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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