Abetalipoproteinemia

Shapiro MD, Feingold KR. Monogenic disorders causing hypobetalipoproteinemia. In: Feingold KR, Anawalt B, Boyce A, et al. eds. Endotext. South Dartmouth (MA): MDText.com, Inc.; 2000–2021.Full text

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

1. Shapiro MD, Feingold KR. Monogenic disorders causing hypobetalipoproteinemia. In: Feingold KR, Anawalt B, Boyce A, et al. eds. Endotext. South Dartmouth (MA): MDText.com, Inc.; 2000–2021.Full text

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. Bredefeld C, Peretti N, Hussain MM, et al. New classification and management of abetalipoproteinemia and related disorders. Gastroenterology. 2021 May;160(6):1912-6.Full text  Abstract

5. 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

6. 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

7. 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

8. 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

9. 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

10. 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

11. 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

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

13. 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

14. Abumrad NA, Davidson NO. Role of the gut in lipid homeostasis. Physiol Rev. 2012 Jul;92(3):1061-85.Full text  Abstract

15. 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

16. Sookoian S, Pirola CJ, Valenti L, et al. Genetic pathways in nonalcoholic fatty liver disease: insights from systems biology. Hepatology. 2020 Jul;72(1):330-46. Abstract

17. Black DD, Hay RV, Rohwer-Nutter PL, et al. Intestinal and hepatic apolipoprotein B gene expression in abetalipoproteinemia. Gastroenterology. 1991 Aug;101(2):520-8.Full text  Abstract

18. Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease. Curr Opin Lipidol. 2020 Apr;31(2):49-55. Abstract

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

20. 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

21. Burnett JR, Hooper AJ, Hegele RA. Abetalipoproteinemia. In: Adam MP, Mirzaa GM, Pagon RA, eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2022.Full text

22. 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

23. 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

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

25. American College of Medical Genetics and Genomics. Five things physicians and patients should question. Choosing Wisely, an initiative of the ABIM Foundation. 2021 [internet publication]. Full text

26. Marchand V; Canadian Paediatric Society, Nutrition and Gastroenterology Committee. The toddler who is falling off the growth chart. Paediatr Child Health. 2012 Oct;17(8):447-54.Full text  Abstract

27. Centers for Disease Control and Prevention. Growth charts. Sept 2010 [internet publication].Full text

28. National Institute for Health and Care Excellence. Faltering growth: recognition and management of faltering growth in children. September 2017 [internet publication].Full text

29. Takahashi M, Okazaki H, Ohashi K, et al. Current diagnosis and management of abetalipoproteinemia. J Atheroscler Thromb. 2021 Oct 1;28(10):1009-19.Full text  Abstract

30. National Institutes of Health Office of Dietary Supplements. Vitamin E. Fact sheet for health professionals. March 2021 [internet publication].Full text