-
1
-
-
84944661343
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
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
-
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
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