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• Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypolphalipoproteinemia and fasting chylomicronemia.

  Steinberg D, Grundy SM, Mok HY, Turner JD, Weinstein DB, Brown WV, Albers JJ. Steinberg D, et al. J Clin Invest. 1979 Jul;64(1):292-301. doi: 10.1172/JCI109451. J Clin Invest. 1979. PMID: 221546 Free PMC article.
• Combined vitamin A and E therapy prevents retinal electrophysiological deterioration in abetalipoproteinaemia.

  Bishara S, Merin S, Cooper M, Azizi E, Delpre G, Deckelbaum RJ. Bishara S, et al. Br J Ophthalmol. 1982 Dec;66(12):767-70. doi: 10.1136/bjo.66.12.767. Br J Ophthalmol. 1982. PMID: 7171526 Free PMC article.
• Familial hypobetalipoproteinaemia in 9 children diagnosed as the result of cord blood screening for hypolipoproteinaemia in 10 000 Danish newborns.

  Andersen GE, Brokhattingen K, Lous P. Andersen GE, et al. Arch Dis Child. 1979 Sep;54(9):691-4. doi: 10.1136/adc.54.9.691. Arch Dis Child. 1979. PMID: 229774 Free PMC article.
• Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.

  Young SG, Hubl ST, Smith RS, Snyder SM, Terdiman JF. Young SG, et al. J Clin Invest. 1990 Mar;85(3):933-42. doi: 10.1172/JCI114522. J Clin Invest. 1990. PMID: 2312735 Free PMC article.
• Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology.

  Berger GM, Brown G, Henderson HE, Bonnici F. Berger GM, et al. J Med Genet. 1983 Jun;20(3):189-95. doi: 10.1136/jmg.20.3.189. J Med Genet. 1983. PMID: 6876109 Free PMC article.