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Rader DJ, Brewer HB Jr. Apolipoproteinemia: new insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. JAMA. 1993;270:865-869.

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1.  Kayden HJ, Traber MG. Abetalipoproteinemia and homozygous hypobetalipoproteinemia. In: Steiner G, Shafrir E, eds. Primary hyperlipoproteinemias. New York, NY: McGraw Hill Inc.; 1991:249-270.

2.  Kayden HJ. The genetic basis of vitamin E deficiency in humans. Nutrition. 2001;17:797-798.

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3.  Narcisi TM, Shoulders CC, Chester SA, et al. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am J Hum Genet. 1995;57:1298-1310.

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4.  Wetterau JR, Aggerbeck LP, Bouma ME, et al. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science. 1992;258:999-1001.

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5.  Benayoun L, Granot E, Rizel L, et al. Abetalipoproteineima in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. Molec Genet Metab. 2007;90:453-457.

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6.  Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M, et al. The role of the microsomal transfer protein in abetalipoproteinemia. Ann Rev Nutr. 2000;20:663-697.

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7.  Gregg RE, Wetterau JR. The molecular basis of abetalipoproteinemia. Curr Opin Lipidol. 1994;5:81-86.

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8.  Du EZ, Wang SL, Kayden HJ, et al. Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in abetalipoproteinemia. J Lipid Res. 1996;37:1309-1315.

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9.  Kayden HJ. The neurologic syndrome of vitamin E deficiency: a significant cause of ataxia. Neurology. 1993;43:2167-2169.

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10.  Chowers I, Banin E, Merin S, et al. Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients. Eye. 2001;15:525-530.

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11.  Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia. Curr Opin Lipidol. 2014;25:161-168.

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12.  Rader DJ, Brewer HB Jr. Apolipoproteinemia: new insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. JAMA. 1993;270:865-869.

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13.  Zamel R, Khan R, Pollex RL, et al. Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis. 2008;3:19.

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14.  Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherit Metab Dis. 2014;37:333-339.

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15.  Muller DP, Lloyd JK, Wolff OH. The role of vitamin E in the treatment of the neurological features of abetalipoproteinemia and other disorders of fat absorption. J Inherit Metab Dis. 1985;8:88-92.

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16.  Hooper AJ, Akinci B, Comlekci A, et al. Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia. Clin Chim Acta. 2008;390:152-155.

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17.  Nasr MB, Symeonidis C, Mikropoulos DG, et al. Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome. Eur J Ophthalmol. 2011;21:674-676.

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18.  Demircioglu F, Oren H, Yilmaz S, et al. Abetalipoproteinemia: importance of the peripheral blood smear. Pediatr Blood Cancer. 2005;45:237.

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