Abstract
The disease was identified in the early 50s by Bassen and Kornzweig [1]. Abetalipoproteinemia is a severe, multisystem disease, characterized by fat malabsorption, acanthocytosis, hypocholesterolemia, and absent serum betalipoproteins. It results from mutations in the gene encoding microsomal triglyceride transfer protein (MTP). It is associated with retinal dystrophy, problems in muscular coordination, and ataxia.
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Puech, B., De Laey, JJ. (2014). Abetalipoproteinemia. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_25
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DOI: https://doi.org/10.1007/978-3-540-69466-3_25
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