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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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| Hoofdauteurs: | , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Medknow Publications & Media Pvt Ltd
2014
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| Onderwerpen: | |
| Online toegang: | 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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