Eine seltene Differenzialdiagnose bei Steatosis hepatis
Tài liệu tham khảo
Heiss G, Tamir I, Davis CE et al. Lipoproteincholesterol distributions in selected North American populations: the lipid research clinics program prevalence study. Circulation. 1980;61(2):302–315.
Cefalu AB, Pirruccello JP, Noto D et al. A novel APOB mutation identiFIed by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia. Arterioscler Thromb Vasc Biol. 2013;33(8):2021–2025.
Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia. Curr Opin Lipidol. 2014;25(3):161–168.
Schwandt P, Parhofer KG. Handbuch der Fettstoffwechselstörungen. 3. Aufl. Stuttgart: Schattauer; 2007.
Schonfeld G. Familial hypobetalipoproteinemia: a review. J Lipid Res. 2003;44(5):878–883.
Tanoli T, Yue P, Yablonskiy D, Schonfeld G. Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity. J Lipid Res. 2004;45(5):941–947.
Schonfeld G, Lin X, Yue P. Familial hypobetalipoproteinemia: genetics and metabolism. Cell Mol Life Sci. 2005;62(12):1372–1378.
Wetterau JR, Aggerbeck LP, Bouma ME et al. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science. 1992;258(5084):999–1001.
Pons V, Rolland C, Nauze M et al. A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). Hum Mutat. 2011;32(7):751–759.
Peretti N, Sassolas A, Roy CC et al. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Orphanet J Rare Dis. 2010;5:24.
Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherit Metab Dis. 2014;37(3):333–339.