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Volumn 15, Issue 6, 2011, Pages 395-398

Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry

Author keywords

[No Author keywords available]

Indexed keywords

ACID LIPASE; DNA;

EID: 79959236090     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2010.0203     Document Type: Article
Times cited : (33)

References (10)
  • 1
    • 84944661343 scopus 로고
    • Generalized xanthomatosis with calcified adrenals
    • Abramov A, Schorr S, Wolman M (1956) Generalized xanthomatosis with calcified adrenals. J Dis Child 91:282-286.
    • (1956) J. Dis. Child , vol.91 , pp. 282-286
    • Abramov, A.1    Schorr, S.2    Wolman, M.3
  • 2
    • 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
  • 3
    • 0025791980 scopus 로고
    • Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase: Similarities to gastric and lingual lipases
    • Anderson RA, Sando GN (1991) Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase: Similarities to gastric and lingual lipases. J Biol Chem 266:22479-22484. (Pubitemid 21908678)
    • (1991) Journal of Biological Chemistry , vol.266 , Issue.33 , pp. 22479-22484
    • Anderson, R.A.1    Sando, G.N.2
  • 4
    • 0002416162 scopus 로고
    • Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D eds, 6th edition, McGraw-Hill, New York
    • Assman G, Seedorf U (1995) Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 6th edition. McGraw-Hill, New York, pp 2563-2587.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 2563-2587
    • Assman, G.1    Seedorf, U.2
  • 5
    • 77953231974 scopus 로고    scopus 로고
    • Abraham's children in the genome era: Major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry
    • Atzmon G, Hao L, Pe'er I, et al. (2010) Abraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry. Am J Hum Genet 86:850-859.
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 850-859
    • Atzmon, G.1    Hao, L.2    Pe'er, I.3
  • 6
    • 0017682803 scopus 로고
    • Receptor mediated uptake of low density lipoprotein and utilization of its cholesterol for steroid synthesis in cultured mouse adrenal cells
    • Faust JR, Goldstein JL, Brown MS (1977) Receptor-mediated uptake of low-density lipoprotein and utilization of its cholesterol for steroid synthesis in cultured mouse adrenal cells. J Biol Chem 252:4861-4871. (Pubitemid 8162196)
    • (1977) Journal of Biological Chemistry , vol.252 , Issue.14 , pp. 4861-4871
    • Faust, J.R.1    Goldstein, J.L.2    Brown, M.S.3
  • 7
    • 0016836751 scopus 로고
    • Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein: Observations in cultured fibroblasts from a patient with CESD
    • Goldstein JL, Dana SE, Faust JR, et al. (1975) Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein: observations in cultured fibroblasts from a patient with CESD. J Biol Chem 250:8487-8795.
    • (1975) J. Biol. Chem. , vol.250 , pp. 8487-8795
    • Goldstein, J.L.1    Dana, S.E.2    Faust, J.R.3
  • 8
    • 0014674556 scopus 로고
    • Deficiency of an acid lipase in Wolman's disease
    • Lake BD, Patrick AD (1969) Deficiency of an acid lipase in Wolman's disease. Nature 222:1067-1068.
    • (1969) Nature , vol.222 , pp. 1067-1068
    • Lake, B.D.1    Patrick, A.D.2
  • 9
    • 79959208195 scopus 로고    scopus 로고
    • National Institute of Health Genetics Home Reference, Available at, accessed June 2, 2010
    • National Institute of Health Genetics Home Reference (2007) Wolman Disease. Available at http://ghr.nlm.nih.gov/condition/wolman-disease, accessed June 2, 2010.
    • (2007) Wolman Disease
  • 10
    • 18744409212 scopus 로고
    • Primary familial xanthomatosis with involvement and calcification of the adrenals: Report of two more cases in siblings of a previously described infant
    • Wolman M, Sterk VV, Gatt S, et al. (1961) Primary familial xanthomatosis with involvement and calcification of the adrenals: report of two more cases in siblings of a previously described infant. Pediatrics 28:742-757.
    • (1961) Pediatrics , vol.28 , pp. 742-757
    • Wolman, M.1    Sterk, V.V.2    Gatt, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.