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Volumn 16, Issue 7, 2014, Pages

Update on primary hypobetalipoproteinemia

Author keywords

Abetalipoproteinemia; Apolipoprotein B; Chylomicron retention disease; Combined hypolipidemia; Familial hypobetalipoproteinemia; Hypobetalipoproteinemia; Low density lipoprotein

Indexed keywords

ABETALIPOPROTEINEMIA; ANGPTL3 GENE; APOB GENE; ARTICLE; CHYLOMICRON RETENTION DISEASE; DNA SEQUENCE; FAMILIAL COMBINED HYPOLIPIDEMIA; FAMILIAL HYPOBETALIPOPROTEINEMIA; GENE; GENE SEQUENCE; HUMAN; LIPOPROTEIN DEFICIENCY; MTTP GENE; PCSK9 GENE; SAR1B GENE; WESTERN BLOTTING; AVITAMINOSIS; COMPLICATION; GENETICS; HYPOBETALIPOPROTEINEMIA, FAMILIAL, APOLIPOPROTEIN B; HYPOBETALIPOPROTEINEMIAS; LOW FAT DIET;

EID: 84901203045     PISSN: 15233804     EISSN: 15346242     Source Type: Journal    
DOI: 10.1007/s11883-014-0423-3     Document Type: Article
Times cited : (44)

References (56)
  • 2
  • 3
    • 84864127581 scopus 로고    scopus 로고
    • Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB)
    • doi:10.1038/ejhg.2012.85
    • Burnett JR, Bell DA, Hooper AJ, Hegele RA. Clinical utility gene card for: familial hypobetalipoproteinaemia (APOB). Eur J Hum Genet. 2012. doi:10.1038/ejhg.2012.85.
    • (2012) Eur J Hum Genet
    • Burnett, J.R.1    Bell, D.A.2    Hooper, A.J.3    Hegele, R.A.4
  • 4
    • 33645103550 scopus 로고    scopus 로고
    • Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
    • Cohen JC, Boerwinkle E, Mosley Jr TH, Hobbs HH. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006;354:1264-72.
    • (2006) N Engl J Med , vol.354 , pp. 1264-1272
    • Cohen, J.C.1    Boerwinkle, E.2    Mosley Jr., T.H.3    Hobbs, H.H.4
  • 5
    • 13944265645 scopus 로고    scopus 로고
    • Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
    • Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet. 2005;37:161-5.
    • (2005) Nat Genet , vol.37 , pp. 161-165
    • Cohen, J.1    Pertsemlidis, A.2    Kotowski, I.K.3    Graham, R.4    Garcia, C.K.5    Hobbs, H.H.6
  • 6
    • 34447299120 scopus 로고    scopus 로고
    • The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population
    • DOI 10.1016/j.atherosclerosis.2006.08.039, PII S0021915006005223
    • Hooper AJ, Marais AD, Tanyanyiwa DM, Burnett JR. The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population. Atherosclerosis. 2007;193:445-8. (Pubitemid 47058112)
    • (2007) Atherosclerosis , vol.193 , Issue.2 , pp. 445-448
    • Hooper, A.J.1    Marais, A.D.2    Tanyanyiwa, D.M.3    Burnett, J.R.4
  • 7
    • 77957171872 scopus 로고    scopus 로고
    • Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers
    • 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.
    • (2010) Orphanet J Rare Dis , vol.5 , pp. 24
    • Peretti, N.1    Sassolas, A.2    Roy, C.C.3
  • 8
    • 84875222132 scopus 로고    scopus 로고
    • Recent developments in the genetics of LDL deficiency
    • Hooper AJ, Burnett JR. Recent developments in the genetics of LDL deficiency. Curr Opin Lipidol. 2013;24:111-5.
    • (2013) Curr Opin Lipidol , vol.24 , pp. 111-115
    • Hooper, A.J.1    Burnett, J.R.2
  • 9
    • 78649755576 scopus 로고    scopus 로고
    • Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia
    • Musunuru K, Pirruccello JP, Do R, et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med. 2010;363:2220-7.
    • (2010) N Engl J Med , vol.363 , pp. 2220-2227
    • Musunuru, K.1    Pirruccello, J.P.2    Do, R.3
  • 10
    • 0026470990 scopus 로고
    • Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia
    • Wetterau JR, Aggerbeck LP, Bouma ME, et al. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science. 1992;258:999-1001.
    • (1992) Science , vol.258 , pp. 999-1001
    • Wetterau, J.R.1    Aggerbeck, L.P.2    Bouma, M.E.3
  • 12
    • 84857133310 scopus 로고    scopus 로고
    • Multiple functions of microsomal triglyceride transfer protein
    • (Lond)
    • Hussain MM, Rava P, Walsh M, Rana M, Iqbal J. Multiple functions of microsomal triglyceride transfer protein. Nutr Metab (Lond). 2012;9:14.
    • (2012) Nutr Metab , vol.9 , pp. 14
    • Hussain, M.M.1    Rava, P.2    Walsh, M.3    Rana, M.4    Iqbal, J.5
  • 14
    • 0030001575 scopus 로고    scopus 로고
    • A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase
    • DOI 10.1074/jbc.271.47.29945
    • Rehberg EF, Samson-Bouma ME, Kienzle B, et al. A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. J Biol Chem. 1996;271:29945-52. (Pubitemid 26389631)
    • (1996) Journal of Biological Chemistry , vol.271 , Issue.47 , pp. 29945-29952
    • Rehberg, E.F.1    Samson-Bouma, M.-E.2    Kienzle, B.3    Blinderman, L.4    Jamil, H.5    Wetterau, J.R.6    Aggerbeck, L.P.7    Gordon, D.A.8
  • 16
    • 0000683245 scopus 로고    scopus 로고
    • Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins
    • Scriver CR, Beaudet AL, Sly WS, Scriver CR, Beaudet AL, Sly WS, editors. New York: McGraw-Hill
    • Kane JP, Havel RJ. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriver CR, Beaudet AL, Sly WS, Scriver CR, Beaudet AL, Sly WS, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 2717-52.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2717-2752
    • Kane, J.P.1    Havel, R.J.2
  • 17
    • 0017804412 scopus 로고
    • Endoscopic assessment in abetalipoproteinemia (Bassen-Kornzweig-Syndrome)
    • Delpre G, Kadish U, Glantz I, Avidor I. Endoscopic assessment in abetalipoproteinemia (Bassen-Kornzweig-syndrome). Endoscopy. 1978;10:59-62. (Pubitemid 8280478)
    • (1978) Endoscopy , vol.10 , Issue.1 , pp. 59-62
    • Delpre, G.1    Kadish, U.2    Glantz, I.3    Avidor, I.4
  • 18
    • 1842330948 scopus 로고    scopus 로고
    • Neurologic findings in vitamin E deficiency
    • Tanyel MC, Mancano LD. Neurologic findings in vitamin E deficiency. Am Fam Physician. 1997;55:197-201. (Pubitemid 27034712)
    • (1997) American Family Physician , vol.55 , Issue.1 , pp. 197-201
    • Mahlon, T.M.C.1    Mancano, L.D.2
  • 20
    • 84903311389 scopus 로고    scopus 로고
    • Abetalipoproteinemia and homozygous hypobetalipoproteinemia: A framework for diagnosis and management
    • doi:10.1007/s10545-013-9665-4. This article discusses the diagnosis, assessment, treatment, and follow-up of ABL and homozygous FHBL
    • •• Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherit Metab Dis. 2014. doi:10.1007/s10545-013-9665-4. This article discusses the diagnosis, assessment, treatment, and follow-up of ABL and homozygous FHBL.
    • (2014) J Inherit Metab Dis
    • Lee, J.1    Hegele, R.A.2
  • 21
    • 0034886063 scopus 로고    scopus 로고
    • Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients
    • Chowers I, Banin E, Merin S, Cooper M, Granot E. Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients. Eye. 2001;15:525-30. (Pubitemid 32755726)
    • (2001) Eye , vol.15 , Issue.4 , pp. 525-530
    • Chowers, I.1    Banin, E.2    Merin, S.3    Cooper, M.4    Granot, E.5
  • 22
    • 77952327993 scopus 로고    scopus 로고
    • Vitamin E, and neurological function
    • Muller DP. Vitamin E, and neurological function. Mol Nutr Food Res. 2010;54:710-8.
    • (2010) Mol Nutr Food Res , vol.54 , pp. 710-718
    • Muller, D.P.1
  • 23
    • 0020565627 scopus 로고
    • The measurement of nanograms of tocopherol from needle aspiration biopsies of adipose tissue: Normal and abetalipoproteinemic subjects
    • Kayden HJ, Hatam LJ, Traber MG. The measurement of nanograms of tocopherol from needle aspiration biopsies of adipose tissue: normal and abetalipoproteinemic subjects. J Lipid Res. 1983;24:652-6. (Pubitemid 13059198)
    • (1983) Journal of Lipid Research , vol.24 , Issue.5 , pp. 652-656
    • Kayden, H.J.1    Hatam, L.J.2    Traber, M.G.3
  • 24
    • 33745450486 scopus 로고    scopus 로고
    • Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia
    • DOI 10.1373/clinchem.2006.068692
    • Clarke MW, Hooper AJ, Headlam HA, Wu JH, Croft KD, Burnett JR. Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia. Clin Chem. 2006;52:1339-45. (Pubitemid 43956026)
    • (2006) Clinical Chemistry , vol.52 , Issue.7 , pp. 1339-1345
    • Clarke, M.W.1    Hooper, A.J.2    Headlam, H.A.3    Wu, J.H.Y.4    Croft, K.D.5    Burnett, J.R.6
  • 25
    • 20744442541 scopus 로고    scopus 로고
    • Familial hypobetalipoproteinemia: Genetics and metabolism
    • DOI 10.1007/s00018-005-4473-0
    • Schonfeld G, Lin X, Yue P. Familial hypobetalipoproteinemia: genetics and metabolism. Cell Mol Life Sci. 2005;62:1372-8. (Pubitemid 40853825)
    • (2005) Cellular and Molecular Life Sciences , vol.62 , Issue.12 , pp. 1372-1378
    • Schonfeld, G.1    Lin, X.2    Yue, P.3
  • 26
    • 79953885803 scopus 로고    scopus 로고
    • Hypobetalipoproteinemia: Genetics, biochemistry, and clinical spectrum
    • Tarugi P, Averna M. Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum. Adv Clin Chem. 2011;54:81-107.
    • (2011) Adv Clin Chem , vol.54 , pp. 81-107
    • Tarugi, P.1    Averna, M.2
  • 30
    • 77949898407 scopus 로고    scopus 로고
    • Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia - Evidence for feedback inhibition of lipogenesis and post-endoplasmic reticulum degradation of apolipoprotein B
    • Zhong S, Magnolo AL, Sundaram M, et al. Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia - evidence for feedback inhibition of lipogenesis and post-endoplasmic reticulum degradation of apolipoprotein B. J Biol Chem. 2010;285:6453-64.
    • (2010) J Biol Chem , vol.285 , pp. 6453-6464
    • Zhong, S.1    Magnolo, A.L.2    Sundaram, M.3
  • 31
    • 0032698343 scopus 로고    scopus 로고
    • Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia
    • Elias N, Patterson BW, Schonfeld G. Decreased production rates of VLDL triglycerides and apoB-100 in subjects heterozygous for familial hypobetalipoproteinemia. Arterioscler Thromb Vasc Biol. 1999;19:2714-21. (Pubitemid 29536048)
    • (1999) Arteriosclerosis, Thrombosis, and Vascular Biology , vol.19 , Issue.11 , pp. 2714-2721
    • Elias, N.1    Patterson, B.W.2    Schonfeld, G.3
  • 32
    • 0025904862 scopus 로고
    • Expression of carboxyl-terminally truncated forms of human apolipoprotein B in rat hepatoma cells: Evidence that the length of apolipoprotein B has a major effect on the buoyant density of the secreted lipoproteins
    • Yao ZM, Blackhart BD, Linton MF, Taylor SM, Young SG, McCarthy BJ. Expression of carboxyl-terminally truncated forms of human apolipoprotein B in rat hepatoma cells. Evidence that the length of apolipoprotein B has amajor effect on the buoyant density of the secreted lipoproteins. J Biol Chem. 1991;266:3300-8. (Pubitemid 21909208)
    • (1991) Journal of Biological Chemistry , vol.266 , Issue.5 , pp. 3300-3308
    • Yao, Z.1    Blackhart, B.D.2    Linton, M.F.3    Taylor, S.M.4    Young, S.G.5    McCarthy, B.J.6
  • 35
    • 73849114174 scopus 로고    scopus 로고
    • PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia
    • Cariou B, Ouguerram K, Zair Y, et al. PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia. Arterioscler Thromb Vasc Biol. 2009;29:2191-7.
    • (2009) Arterioscler Thromb Vasc Biol , vol.29 , pp. 2191-2197
    • Cariou, B.1    Ouguerram, K.2    Zair, Y.3
  • 39
    • 2142762456 scopus 로고    scopus 로고
    • Fatty liver in familial hypobetalipoproteinemia: Roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity
    • DOI 10.1194/jlr.M300508-JLR200
    • 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;45:941-7. (Pubitemid 38552865)
    • (2004) Journal of Lipid Research , vol.45 , Issue.5 , pp. 941-947
    • Tanoli, T.1    Yue, P.2    Yablonskiy, D.3    Schonfeld, G.4
  • 40
    • 79960910228 scopus 로고    scopus 로고
    • Hepatic steatosis does not cause insulin resistance in people with familial hypobetalipoproteinaemia
    • Visser ME, Lammers NM, Nederveen AJ, et al. Hepatic steatosis does not cause insulin resistance in people with familial hypobetalipoproteinaemia. Diabetologia. 2011;54:2113-21.
    • (2011) Diabetologia , vol.54 , pp. 2113-2121
    • Visser, M.E.1    Lammers, N.M.2    Nederveen, A.J.3
  • 41
    • 79953321200 scopus 로고    scopus 로고
    • Genetic determinants of hepatic steatosis in man
    • Hooper AJ, Adams LA, Burnett JR. Genetic determinants of hepatic steatosis in man. J Lipid Res. 2011;52:593-617.
    • (2011) J Lipid Res , vol.52 , pp. 593-617
    • Hooper, A.J.1    Adams, L.A.2    Burnett, J.R.3
  • 42
    • 0031772878 scopus 로고    scopus 로고
    • Familial heterozygous hypobetalipoproteinemia, extrahepatic primary malignancy, and hepatocellular carcinoma
    • Lonardo A, Tarugi P, Ballarini G, Bagni A. Familial heterozygous hypobetalipoproteinemia, extrahepatic primary malignancy, and hepatocellular carcinoma. Dig Dis Sci. 1998;43:2489-92. (Pubitemid 28531325)
    • (1998) Digestive Diseases and Sciences , vol.43 , Issue.11 , pp. 2489-2492
    • Lonardo, A.1    Tarugi, P.2    Ballarini, G.3    Bagni, A.4
  • 43
    • 0033845820 scopus 로고    scopus 로고
    • A study of fatty liver disease and plasma lipoprotiens in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (apo B-54.5)
    • DOI 10.1016/S0168-8278(00)80270-6
    • Tarugi P, Lonardo A, Ballarini G, et al.Astudy of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5). J Hepatol. 2000;33:361-70. (Pubitemid 30663372)
    • (2000) Journal of Hepatology , vol.33 , Issue.3 , pp. 361-370
    • Tarugi, P.1    Lonardo, A.2    Ballarini, G.3    Erspamer, L.4    Tondelli, E.5    Bertolini, S.6    Calandra, S.7
  • 45
    • 0037439881 scopus 로고    scopus 로고
    • COPII proteins are requierd for Golgi fusion but not for endoplasmic reticulum budding of the prechylomicron transport vesicle
    • DOI 10.1242/jcs.00215
    • Siddiqi SA, Gorelick FS, Mahan JT, Mansbach 2nd CM. COPII proteins are required for Golgi fusion but not for endoplasmic reticulum budding of the pre-chylomicron transport vesicle. J Cell Sci. 2003;116:415-27. (Pubitemid 36163881)
    • (2003) Journal of Cell Science , vol.116 , Issue.2 , pp. 415-427
    • Siddiqi, S.A.1    Gorelick, F.S.2    Mahan, J.T.3    Mansbach II, C.M.4
  • 46
    • 67349198653 scopus 로고    scopus 로고
    • Chylomicron retention disease: A long term study of two cohorts
    • Peretti N, Roy CC, Sassolas A, et al. Chylomicron retention disease: a long term study of two cohorts.Mol GenetMetab. 2009;97: 136-42.
    • (2009) Mol GenetMetab , vol.97 , pp. 136-142
    • Peretti, N.1    Roy, C.C.2    Sassolas, A.3
  • 47
    • 77957674104 scopus 로고    scopus 로고
    • Association of angiopoietin-like protein 3 with hepatic triglyceride lipase and lipoprotein lipase activities in human plasma
    • Nakajima K, Kobayashi J, Mabuchi H, et al. Association of angiopoietin-like protein 3 with hepatic triglyceride lipase and lipoprotein lipase activities in human plasma. Ann Clin Biochem. 2010;47:423-31.
    • (2010) Ann Clin Biochem , vol.47 , pp. 423-431
    • Nakajima, K.1    Kobayashi, J.2    Mabuchi, H.3
  • 48
    • 59449084854 scopus 로고    scopus 로고
    • The angiopoietin-like proteins ANGPTL3 and ANGPTL4 inhibit lipoprotein lipase activity through distinct mechanisms
    • Shan L, Yu XC, Liu Z, et al. The angiopoietin-like proteins ANGPTL3 and ANGPTL4 inhibit lipoprotein lipase activity through distinct mechanisms. J Biol Chem. 2009;284:1419-24.
    • (2009) J Biol Chem , vol.284 , pp. 1419-1424
    • Shan, L.1    Yu, X.C.2    Liu, Z.3
  • 49
    • 0026019994 scopus 로고
    • A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene
    • Fazio S, Sidoli A, Vivenzio A, et al. A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene. J Intern Med. 1991;229:41-7.
    • (1991) J Intern Med , vol.229 , pp. 41-47
    • Fazio, S.1    Sidoli, A.2    Vivenzio, A.3
  • 50
    • 84863570067 scopus 로고    scopus 로고
    • Mutations in the ANGPTL3 gene and familial combined hypolipidemia: A clinical and biochemical characterization
    • Minicocci I, Montali A, Robciuc MR, et al. Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization. J Clin Endocrinol Metab. 2012;97:E1266-75.
    • (2012) J Clin Endocrinol Metab , vol.97
    • Minicocci, I.1    Montali, A.2    Robciuc, M.R.3
  • 51
    • 84887981369 scopus 로고    scopus 로고
    • Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: A pooled analysis
    • Minicocci I, Santini S, Cantisani V, et al. Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis. J Lipid Res. 2013;54:3481-90.
    • (2013) J Lipid Res , vol.54 , pp. 3481-3490
    • Minicocci, I.1    Santini, S.2    Cantisani, V.3
  • 52
    • 84879123717 scopus 로고    scopus 로고
    • Angptl3 deficiency is associated with increased insulin sensitivity, lipoprotein lipase activity, and decreased serum free fatty acids
    • This article shows that although partial deficiency of ANGPTL3 did not affect lipase activity, complete deficiency decreased the levels of free fatty acids and improved insulin sensitivity
    • .• Robciuc MR, Maranghi M, Lahikainen A, et al. Angptl3 deficiency is associated with increased insulin sensitivity, lipoprotein lipase activity, and decreased serum free fatty acids. Arterioscler Thromb Vasc Biol. 2013;33:1706-13. This article shows that although partial deficiency of ANGPTL3 did not affect lipase activity, complete deficiency decreased the levels of free fatty acids and improved insulin sensitivity.
    • (2013) Arterioscler Thromb Vasc Biol , vol.33 , pp. 1706-1713
    • Robciuc, M.R.1    Maranghi, M.2    Lahikainen, A.3
  • 53
    • 84886292773 scopus 로고    scopus 로고
    • Functional and morphological vascular changes in subjects with familial combined hypolipidemia: An exploratory analysis
    • Despite an approximately 50% reduction in the concentration of LDL cholesterol, ANGPTL3 homozygotes had increased CIMT
    • .•• Minicocci I, Cantisani V, Poggiogalle E, et al. Functional and morphological vascular changes in subjects with familial combined hypolipidemia: an exploratory analysis. Int J Cardiol. 2013;168: 4375-8. Despite an approximately 50% reduction in the concentration of LDL cholesterol, ANGPTL3 homozygotes had increased CIMT.
    • (2013) Int J Cardiol , vol.168 , pp. 4375-4378
    • Minicocci, I.1    Cantisani, V.2    Poggiogalle, E.3
  • 54
    • 84857641121 scopus 로고    scopus 로고
    • Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia
    • Noto D, Cefalu AB, Valenti V, et al. Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia. Arterioscler Thromb Vasc Biol. 2012;32:805-9.
    • (2012) Arterioscler Thromb Vasc Biol , vol.32 , pp. 805-809
    • Noto, D.1    Cefalu, A.B.2    Valenti, V.3
  • 55
    • 84861532367 scopus 로고    scopus 로고
    • Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease)
    • Ouguerram K, Zair Y, Kasbi-Chadli F, et al. Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease). Arterioscler Thromb Vasc Biol. 2012;32:1520-5.
    • (2012) Arterioscler Thromb Vasc Biol , vol.32 , pp. 1520-1525
    • Ouguerram, K.1    Zair, Y.2    Kasbi-Chadli, F.3
  • 56
    • 84897417989 scopus 로고    scopus 로고
    • LipidSeq: A next-generation clinical resequencing panel for monogenic dyslipidemias
    • This article describes the design and performance of a targeted resequencing panel which has potential to aid in molecular diagnosis of dyslipidemias, including primary HBL
    • .•• Johansen CT, Dube JB, Loyzer MN, et al. LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias. J Lipid Res. 2014;55:765-72. This article describes the design and performance of a targeted resequencing panel which has potential to aid in molecular diagnosis of dyslipidemias, including primary HBL.
    • (2014) J Lipid Res , vol.55 , pp. 765-772
    • Johansen, C.T.1    Dube, J.B.2    Loyzer, M.N.3


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