Referências
Principais artigos
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.Texto completo
Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherit Metab Dis. 2014 May;37(3):333-9. Resumo
Artigos de referência
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.Texto completo
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. Resumo
3. Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia. Curr Opin Lipidol. 2014 Jun;25(3):161-8.Texto completo Resumo
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.Texto completo Resumo
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. Resumo
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.Texto completo Resumo
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).Texto completo Resumo
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. Resumo
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.Texto completo Resumo
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. Resumo
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. Resumo
12. Gregg RE, Wetterau JR. The molecular basis of abetalipoproteinemia. Curr Opin Lipidol. 1994 Apr;5(2):81-6. Resumo
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. Resumo
14. Abumrad NA, Davidson NO. Role of the gut in lipid homeostasis. Physiol Rev. 2012 Jul;92(3):1061-85.Texto completo Resumo
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. Resumo
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. Resumo
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.Texto completo Resumo
18. Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease. Curr Opin Lipidol. 2020 Apr;31(2):49-55. Resumo
19. Levy E. Insights from human congenital disorders of intestinal lipid metabolism. J Lipid Res. 2014 Nov 11;56(5):945-62. Resumo
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. Resumo
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.Texto completo
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. Resumo
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. Resumo
24. Demircioglu F, Oren H, Yilmaz S, et al. Abetalipoproteinemia: importance of the peripheral blood smear. Pediatr Blood Cancer. 2005 Aug;45(2):237. Resumo
25. Takahashi M, Okazaki H, Ohashi K, et al. Current diagnosis and management of abetalipoproteinemia. J Atheroscler Thromb. 2021 Oct 1;28(10):1009-19.Texto completo Resumo
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