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Volumn 20, Issue 8, 2012, Pages 909-

Clinical utility gene card for: Familial Hypobetalipoproteinaemia (APOB)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

EID: 84864127581     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.85     Document Type: Article
Times cited : (14)

References (11)
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    • Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins
    • Scriver CR, Beaudet AL, Sly WS et al (eds) New York: McGraw-Hill 8th edn
    • Kane JP, Havel RJ: Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins; in Scriver CR, Beaudet AL, Sly WS et al (eds): The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2001; 8th edn, pp 2717-2752.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2717-2752
    • Kane, J.P.1    Havel, R.J.2
  • 2
  • 3
    • 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
  • 6
    • 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
  • 8
    • 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 et al: Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia. Clin Chem 2006; 52: 1339-1345. (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
  • 9
    • 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 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; 15: 525-530. (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
  • 10
    • 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: A study 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: 361-370. (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
  • 11
    • 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: 2489-2492. (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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.