Abstract
A-β-lipoproteinemia has been known for 15 years. It is characterized by neuromuscular disturbances, mainly progressive ataxic neuropathy, by retinal changes consisting of atypical pigmentary retinitis with involvement of the macula, by deficiency or lack of serum β-lipoproteins, by morphologic abnormalities of red cells (acanthocytosis) and by steatorrhea. Lack of β-lipoproteins and acanthocytosis are found in all cases. They are specific symptoms and exist from birth, while other symptoms may occur in other disorders as well. Ataxic neuropathy and retinitis pigmentosa may or may not develop during the course of the disease, and steatorrhea or a celiac syndrome are early symptoms in most cases, but may not be found in others.
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Kahlke, W. (1967). A-β-Lipoproteinemia. In: Schettler, G. (eds) Lipids and Lipidoses. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-87367-6_14
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