-
1
-
-
0027954965
-
Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase
-
Ameis D, Merkel M, Eckerskorn C, Greten H (1994) Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. Eur J Biochem 219:905-914
-
(1994)
Eur J Biochem
, vol.219
, pp. 905-914
-
-
Ameis, D.1
Merkel, M.2
Eckerskorn, C.3
Greten, H.4
-
2
-
-
0025791980
-
Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesterol ester hydrolase
-
Anderson RA, Sando GN (1991) Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesterol ester hydrolase. J Biol Chem 266:22479-22484
-
(1991)
J Biol Chem
, vol.266
, pp. 22479-22484
-
-
Anderson, R.A.1
Sando, G.N.2
-
3
-
-
0027478365
-
In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesterol esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3
-
Anderson RA, Rao N, Byrum RS, Rothshild CB, Bowden DW, Hayworth R, Pettenati M (1993) In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesterol esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3. Genomics 15:245-247
-
(1993)
Genomics
, vol.15
, pp. 245-247
-
-
Anderson, R.A.1
Rao, N.2
Byrum, R.S.3
Rothshild, C.B.4
Bowden, D.W.5
Hayworth, R.6
Pettenati, M.7
-
4
-
-
23444460383
-
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease
-
Anderson RA, Byrum RS, Coates PM, Sando GN (1994) Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci USA 91:2718-2722
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 2718-2722
-
-
Anderson, R.A.1
Byrum, R.S.2
Coates, P.M.3
Sando, G.N.4
-
5
-
-
0002416162
-
Acid lipase deficiency: Wolman disease and cholesterol ester storage disease
-
Scnver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York
-
Assmann G, Seedorf U (1995) Acid lipase deficiency: Wolman disease and cholesterol ester storage disease. In: Scnver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular basis of inherited disease. 7th edn. McGraw-Hill, New York, pp 2563-2587
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease. 7th Edn.
, pp. 2563-2587
-
-
Assmann, G.1
Seedorf, U.2
-
6
-
-
85016750763
-
Simple and rapid preparation of samples for PCR
-
Ehrlich HA (ed) Stockton Press, New York
-
Higuchi R (1989) Simple and rapid preparation of samples for PCR. In: Ehrlich HA (ed) PCR technology, principles and applications for DNA amplification. Stockton Press, New York, pp 31-38
-
(1989)
PCR Technology, Principles and Applications for DNA Amplification
, pp. 31-38
-
-
Higuchi, R.1
-
7
-
-
0027131856
-
A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storaae disease
-
Klima H, Ullrich K, Aslanidis C, Fehringer P, Lackner KJ, Schmilz G (1993) A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storaae disease. J Clin Invest 92: 2713-2718
-
(1993)
J Clin Invest
, vol.92
, pp. 2713-2718
-
-
Klima, H.1
Ullrich, K.2
Aslanidis, C.3
Fehringer, P.4
Lackner, K.J.5
Schmilz, G.6
-
8
-
-
0014409340
-
Lysosomal lipases of rat liver and kidney
-
Mahadevan S, Tappel AL (1968) Lysosomal lipases of rat liver and kidney. J Biol Chem 243:2849-2854
-
(1968)
J Biol Chem
, vol.243
, pp. 2849-2854
-
-
Mahadevan, S.1
Tappel, A.L.2
-
9
-
-
0027259126
-
Mutagenically separated PCR (MS-PCR): A high specific one step procedure for easy mutation detection
-
Rust S, Funke H, Assmann G (1993) Mutagenically separated PCR (MS-PCR): a high specific one step procedure for easy mutation detection. Nucleic Acids Res 21:3623-3629
-
(1993)
Nucleic Acids Res
, vol.21
, pp. 3623-3629
-
-
Rust, S.1
Funke, H.2
Assmann, G.3
-
10
-
-
0029014828
-
A novel variant of lysosomal acid lipase (Leu336Pro) associated with acid lipase deficency and cholesterol ester storage disease (CESD)
-
Seedorf U, Wiebusch H, Muntoni SA, Christensen NC, Skovby F, Nickel V, Roskos M, Funke H, Ose L, Assmann G (1995) A novel variant of lysosomal acid lipase (Leu336Pro) associated with acid lipase deficency and cholesterol ester storage disease (CESD). Arterioscler Thromb Vasc Biol 15:773-778
-
(1995)
Arterioscler Thromb Vasc Biol
, vol.15
, pp. 773-778
-
-
Seedorf, U.1
Wiebusch, H.2
Muntoni, S.A.3
Christensen, N.C.4
Skovby, F.5
Nickel, V.6
Roskos, M.7
Funke, H.8
Ose, L.9
Assmann, G.10
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