Abetalipoproteinaemia

References

Key articles

Shapiro MD. Rare genetic disorders altering lipoproteins. In: De Groot LJ, Chrousos G, Dungan K, et al., eds. Endotext. August 2018 [internet publication].Full text  Abstract

Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherit Metab Dis. 2014 May;37(3):333-9. Abstract

Reference articles

1. Shapiro MD. Rare genetic disorders altering lipoproteins. In: De Groot LJ, Chrousos G, Dungan K, et al., eds. Endotext. August 2018 [internet publication].Full text  Abstract

2. Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherit Metab Dis. 2014 May;37(3):333-9. Abstract

3. Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia. Curr Opin Lipidol. 2014 Jun;25(3):161-8.Full text  Abstract

4. Burnett JR, Hooper AJ. Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. Free Radic Biol Med. 2015 Jun 16;88(pt a):59-62. Abstract

5. Zamel R, Khan R, Pollex RL, et al. Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis. 2008 Jul 8;3:19.Full text  Abstract

6. Burnett JR, Bell DA, Hooper AJ, et al. Clinical utility gene card for: abetalipoproteinaemia--update 2014. Eur J Hum Genet. 2015 Jun;23(6).Full text  Abstract

7. 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 Apr;90(4):453-7. Abstract

8. Narcisi TM, Shoulders CC, Chester SA, et al. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am J Hum Genet. 1995 Dec;57(6):1298-310.Full text  Abstract

9. Wetterau JR, Aggerbeck LP, Bouma ME, et al. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science. 1992 Nov 6;258(5084):999-1001. Abstract

10. Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M, et al. The role of the microsomal transfer protein in abetalipoproteinemia. Ann Rev Nutr. 2000;20:663-97. Abstract

11. Gregg RE, Wetterau JR. The molecular basis of abetalipoproteinemia. Curr Opin Lipidol. 1994 Apr;5(2):81-6. Abstract

12. Sirwi A, Hussain MM. Lipid transfer proteins in the assembly of apoB-containing lipoproteins. J Lipid Res. 2018 Apr 12;59(7):1094-1102. Abstract

13. Di Filippo M, Moulin P, Roy P, et al. Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia. J Hepatol. 2014 May 16;61(4):891-902. Abstract

14. Levy E. Insights from human congenital disorders of intestinal lipid metabolism. J Lipid Res. 2014 Nov 11;56(5):945-62. Abstract

15. Magnolo L, Najah M, Fancello T, et al. Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. Gene. 2012 Oct 6;512(1):28-34. Abstract

16. Nasr MB, Symeonidis C, Mikropoulos DG, et al. Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome. Eur J Ophthalmol. 2011 Sep-Oct;21(5):674-6. Abstract

17. 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 Aug;15(Pt 4):525-30. Abstract

18. Demircioglu F, Oren H, Yilmaz S, et al. Abetalipoproteinemia: importance of the peripheral blood smear. Pediatr Blood Cancer. 2005 Aug;45(2):237. Abstract

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