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Volumn 32, Issue SUPPL. 1, 2009, Pages

Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL ESTERASE;

EID: 84880985603     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-1027-2     Document Type: Article
Times cited : (21)

References (9)
  • 1
    • 0032743344 scopus 로고    scopus 로고
    • Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease
    • Anderson RA, Bryson GM, Parks JS (1999) Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. Mol Genet Metab 68: 333-345.
    • (1999) Mol Genet Metab , vol.68 , pp. 333-345
    • Anderson, R.A.1    Bryson, G.M.2    Parks, J.S.3
  • 2
    • 0002416162 scopus 로고    scopus 로고
    • Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. New York: McGraw-Hill
    • Assmann G, Seedorf U (2001) Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3551-3572.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3551-3572
    • Assmann, G.1    Seedorf, U.2
  • 3
    • 0018904714 scopus 로고
    • Lysosomal acid lipase in cultivated fibroblasts: Characterization of enzyme activity in normal and enzymatically deficient cell lines
    • DOI 10.1016/0009-8981(80)90052-2
    • Burton BK, Emery D, Mueller HW (1980) Lysosomal acid lipase in cultivated fibroblast: characterization of enzyme activity in normal and enzymatically deficient cell line. Clin Chim Acta 101: 25-32. (Pubitemid 10129762)
    • (1980) Clinica Chimica Acta , vol.101 , Issue.1 , pp. 25-32
    • Burton, B.K.1    Emery, D.2    Mueller, H.W.3
  • 5
    • 0034055637 scopus 로고    scopus 로고
    • Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer
    • DOI 10.1016/S0168-8278(00)80407-9
    • Elleder M, Chlumskà A, Hyànek J, et al (2000) Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer. J Hepatol 32: 528-534. (Pubitemid 30136871)
    • (2000) Journal of Hepatology , vol.32 , Issue.3 , pp. 528-534
    • Elleder, M.1    Chlumska, A.2    Hyanek, J.3    Poupetova, H.4    Ledvinova, J.5    Maas, S.6    Lohse, P.7
  • 6
    • 0029046417 scopus 로고
    • Homozygosity for a splice junction mutation in hexon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)
    • Muntoni S, Wiebush H, Funke H, et al (1995) Homozygosity for a splice junction mutation in hexon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD). Hum Genet 95: 491-494
    • (1995) Hum Genet , vol.95 , pp. 491-494
    • Muntoni, S.1    Wiebush, H.2    Funke, H.3
  • 9
    • 28444497405 scopus 로고    scopus 로고
    • Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease
    • Tadiboyina VT, Liu DM, Miskie BA, et al (2005) Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease. Lipids Health Dis 4: 26-31.
    • (2005) Lipids Health Dis , vol.4 , pp. 26-31
    • Tadiboyina, V.T.1    Liu, D.M.2    Miskie, B.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.