Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.


Abetalipoproteinemia (ABL) is a rare monogenic disease characterized by very low plasma levels of cholesterol and triglyceride and almost complete absence of apolipoprotein B (apoB)-containing lipoproteins. Typically, patients present with failure to thrive, acanthocytosis, pigmented retinopathy and neurological features. It has been shown that ABL results… (More)
DOI: 10.1016/j.jocn.2013.04.016


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