-
1
-
-
0007574360
-
Familial lipoprotein lipase deficiency and related disorders of chylomicron metabolism
-
In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds., 5th ed. New York: McGraw-Hill
-
Nikkilä EA. Familial lipoprotein lipase deficiency and related disorders of chylomicron metabolism. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, eds. The metabolic basis of inherited disease. 5th ed. New York: McGraw-Hill, 1983:622–42.
-
(1983)
The metabolic basis of inherited disease
, pp. 622-642
-
-
Nikkilä, E.A.1
-
2
-
-
0017888564
-
Hypertriglyceridemia associated with deficiency of apolipoprotein C-II
-
Breckenridge WC, Little JA, Steiner G, Chow A, Poapst M. Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. N Engl J Med 1978; 298:1265–73.
-
(1978)
N Engl J Med
, vol.298
, pp. 1265-1273
-
-
Breckenridge, W.C.1
Little, J.A.2
Steiner, G.3
Chow, A.4
Poapst, M.5
-
3
-
-
0020699657
-
Familial chylomicronemia due to a circulating inhibitor of lipoprotein lipase activity
-
Brunzell JD, Miller NE, Alaupovic P, et al. Familial chylomicronemia due to a circulating inhibitor of lipoprotein lipase activity. J Lipid Res 1983; 24:12–9.
-
(1983)
J Lipid Res
, vol.24
, pp. 12-19
-
-
Brunzell, J.D.1
Miller, N.E.2
Alaupovic, P.3
-
4
-
-
0024533690
-
Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population
-
Gagne C, Brun LD, Julien P, Moorjani S, Lupien PJ. Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population. Can Med Assoc J 1989; 140:405–11.
-
(1989)
Can Med Assoc J
, vol.140
, pp. 405-411
-
-
Gagne, C.1
Brun, L.D.2
Julien, P.3
Moorjani, S.4
Lupien, P.J.5
-
5
-
-
0002330773
-
Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome
-
In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds., 6th ed., New York: McGraw-Hill
-
Brunzell JD. Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. 6th ed. Vol. 1. New York: McGraw-Hill. 1989:1165–80.
-
(1989)
The metabolic basis of inherited disease
, vol.1
, pp. 1165-1180
-
-
Brunzell, J.D.1
-
7
-
-
0023176853
-
Heparin decreases the degradation rate of lipoprotein lipase in adipocytes
-
Cupp M, Bensadoun A, Melford K. Heparin decreases the degradation rate of lipoprotein lipase in adipocytes. J Biol Chem 1987; 262:6383–8.
-
(1987)
J Biol Chem
, vol.262
, pp. 6383-6388
-
-
Cupp, M.1
Bensadoun, A.2
Melford, K.3
-
8
-
-
0023090942
-
Human lipoprotein lipase complementary DNA sequence
-
Wion KL, Kirchgessner TG, Lusis AJ, Schotz MC, Lawn RM. Human lipoprotein lipase complementary DNA sequence. Science 1987; 235:1638–41.
-
(1987)
Science
, vol.235
, pp. 1638-1641
-
-
Wion, K.L.1
Kirchgessner, T.G.2
Lusis, A.J.3
Schotz, M.C.4
Lawn, R.M.5
-
9
-
-
0023423565
-
Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21
-
Sparkes RS, Zollman S, Klisak I, et al. Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21. Genomics 1987; 1:138–44.
-
(1987)
Genomics
, vol.1
, pp. 138-144
-
-
Sparkes, R.S.1
Zollman, S.2
Klisak, I.3
-
10
-
-
0024397097
-
Structure of the human lipoprotein lipase gene
-
Deeb SS, Peng R. Structure of the human lipoprotein lipase gene. Biochemistry 1989; 28:4131–5.
-
(1989)
Biochemistry
, vol.28
, pp. 4131-4135
-
-
Deeb, S.S.1
Peng, R.2
-
11
-
-
33845185264
-
-
Erratum, Biochemistry 1989; 28: 6786.
-
(1989)
Biochemistry
, vol.28
, pp. 6786
-
-
-
12
-
-
0025097959
-
Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency
-
Devlin RH, Deeb S, Brunzell J, Hayden MR. Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. Am J Hum Genet 1990; 46:112–9.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 112-119
-
-
Devlin, R.H.1
Deeb, S.2
Brunzell, J.3
Hayden, M.R.4
-
13
-
-
0343970363
-
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency
-
Langlois S, Deeb S, Brunzell JD, Kastelein JJP, Hayden MR. A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. Proc Natl Acad Sci U S A 1989; 86:948–52.
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 948-952
-
-
Langlois, S.1
Deeb, S.2
Brunzell, J.D.3
Kastelein, J.J.P.4
Hayden, M.R.5
-
14
-
-
0025811179
-
Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene
-
Ameis D, Kobayashi J, Davis RC, et al. Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. J Clin Invest 1991; 87:1165–70.
-
(1991)
J Clin Invest
, vol.87
, pp. 1165-1170
-
-
Ameis, D.1
Kobayashi, J.2
Davis, R.C.3
-
15
-
-
0025195637
-
Lipoprotein lipaseBelhesda: a single amino acid substitution (Ala176→Thr) leads to abnormal heparin binding and loss of enzymic activity
-
Beg OU, Meng MS, Skarlatos SI, et al. Lipoprotein lipaseBelhesda: a single amino acid substitution (Ala176→Thr) leads to abnormal heparin binding and loss of enzymic activity. Proc Natl Acad Sci U S A 1990; 87:3474–8.
-
(1990)
Proc Natl Acad Sci U S A
, vol.87
, pp. 3474-3478
-
-
Beg, O.U.1
Meng, M.S.2
Skarlatos, S.I.3
-
16
-
-
0025239015
-
Missense mutation (Gly→Glu188) of human lipoprotein lipase imparting functional deficiency
-
Emi M, Wilson DE, Iverius PH, et al. Missense mutation (Gly→Glu188) of human lipoprotein lipase imparting functional deficiency. J Biol Chem 1990; 265:5910–6.
-
(1990)
J Biol Chem
, vol.265
, pp. 5910-5916
-
-
Emi, M.1
Wilson, D.E.2
Iverius, P.H.3
-
17
-
-
0025053164
-
A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries
-
Monsalve MV, Henderson H, Roederer G, et al. A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. J Clin Invest 1990; 86:728–34.
-
(1990)
J Clin Invest
, vol.86
, pp. 728-734
-
-
Monsalve, M.V.1
Henderson, H.2
Roederer, G.3
-
18
-
-
0025292715
-
Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene
-
Emi M, Hata A, Robertson M, Iverius PH, Hegele R, Lalouel JM. Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene. Am J Hum Genet 1990; 47:107–11.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 107-111
-
-
Emi, M.1
Hata, A.2
Robertson, M.3
Iverius, P.H.4
Hegele, R.5
Lalouel, J.M.6
-
19
-
-
0025010582
-
Compound heterozygote for lipoprotein lipase deficiency: Ser→Thr244 and transition in 3′ splice site of intron 2 (AG→AA) in the lipoprotein lipase gene
-
Hata A, Emi M, Luc G, et al. Compound heterozygote for lipoprotein lipase deficiency: Ser→Thr244 and transition in 3′ splice site of intron 2 (AG→AA) in the lipoprotein lipase gene. Am J Hum Genet 1990; 47:721–6.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 721-726
-
-
Hata, A.1
Emi, M.2
Luc, G.3
-
20
-
-
0026046258
-
Amino acid substitution (He→Thr194) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands: support for a multicentric origin
-
Henderson HE, Ma Y, Hassan MF, et al. Amino acid substitution (He→Thr194) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands: support for a multicentric origin. J Clin Invest 1991; 87:2005–11.
-
(1991)
J Clin Invest
, vol.87
, pp. 2005-2011
-
-
Henderson, H.E.1
Ma, Y.2
Hassan, M.F.3
-
21
-
-
0025616119
-
Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency
-
Henderson HE, Devlin R, Peterson J, Brunzell JD, Hayden MR. Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency. Mol Biol Med 1990; 7:511–7.
-
(1990)
Mol Biol Med
, vol.7
, pp. 511-517
-
-
Henderson, H.E.1
Devlin, R.2
Peterson, J.3
Brunzell, J.D.4
Hayden, M.R.5
-
22
-
-
0024383955
-
The detection and characterization of the heterozygous state for lipoprotein lipase deficiency
-
Babirak SP, Iverius PH, Fujimoto WY, Brunzell JD. The detection and characterization of the heterozygous state for lipoprotein lipase deficiency. Arteriosclerosis 1989; 9:326–34.
-
(1989)
Arteriosclerosis
, vol.9
, pp. 326-334
-
-
Babirak, S.P.1
Iverius, P.H.2
Fujimoto, W.Y.3
Brunzell, J.D.4
-
23
-
-
0024791277
-
An efficient salt-choloroform extraction of DNA from blood and tissues
-
Mullenbach R. Lagoda PJ, Welter C. An efficient salt-choloroform extraction of DNA from blood and tissues. Trends Genet 1989; 5: 391.
-
(1989)
Trends Genet
, vol.5
, pp. 391
-
-
Mullenbach, R.1
Lagoda, P.J.2
Welter, C.3
-
24
-
-
0023664963
-
Two polymorphisms in the human lipoprotein lipase (LPL) gene
-
Fisher KL, FitzGerald GA, Lawn RM. Two polymorphisms in the human lipoprotein lipase (LPL) gene. Nucleic Acids Res 1987; 15: 7657.
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 7657
-
-
Fisher, K.L.1
FitzGerald, G.A.2
Lawn, R.M.3
-
25
-
-
18844471875
-
Hind III RFLP in the lipoprotein lipase gene (LPL)
-
Funke H, Klug J, Assmann G. Hind III RFLP in the lipoprotein lipase gene (LPL). Nucleic Acids Res 1987; 15: 9102.
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 9102
-
-
Funke, H.1
Klug, J.2
Assmann, G.3
-
26
-
-
0024849272
-
A vector that expresses secreted proteins on the cell surface
-
Wang X, Milne R, Marcel Y, Rassart E. A vector that expresses secreted proteins on the cell surface. DNA 1989; 8:753–8.
-
(1989)
DNA
, vol.8
, pp. 753-758
-
-
Wang, X.1
Milne, R.2
Marcel, Y.3
Rassart, E.4
-
27
-
-
85030205783
-
Origines francaises de la population canadienne
-
1608–1759, Des origines a 1800. Montreal: Université de Montreal
-
Charbonneau H, Robert N. Origines francaises de la population canadienne, 1608–1759. In: L'atlas historique du Canada. Vol. 1. Des origines a 1800. Montreal: Université de Montreal, 1987:118–9.
-
(1987)
L'atlas historique du Canada
, vol.1
, pp. 118-119
-
-
Charbonneau, H.1
Robert, N.2
-
28
-
-
85023267196
-
Founder effect in familial hyperchylomicronemia among French Canadians of Quebec
-
(in press)
-
De Braekeleer M, Dionne C, Gagne C, et al. Founder effect in familial hyperchylomicronemia among French Canadians of Quebec. Hum Hered (in press).
-
Hum Hered
-
-
De Braekeleer, M.1
Dionne, C.2
Gagne, C.3
-
29
-
-
0017384270
-
High density lipoprotein as a protective factor against coronary heart disease: the Framingham Study
-
Gordon T, Castelli WP, Hjortlund MC, Kannel WB, Dawber TR. High density lipoprotein as a protective factor against coronary heart disease: the Framingham Study. Am J Med 1977; 62:707–14.
-
(1977)
Am J Med
, vol.62
, pp. 707-714
-
-
Gordon, T.1
Castelli, W.P.2
Hjortlund, M.C.3
Kannel, W.B.4
Dawber, T.R.5
-
30
-
-
0023160916
-
High density lipoprotein2: relationships of the plasma levels of this lipoprotein species to its composition, to the magnitude of postprandial lipemia, and to the activities of lipoprotein lipase and hepatic lipase
-
Patsch JR, Prasad S, Gotto AM Jr, Patsch W. High density lipoprotein2: relationships of the plasma levels of this lipoprotein species to its composition, to the magnitude of postprandial lipemia, and to the activities of lipoprotein lipase and hepatic lipase. J Clin Invest 1987; 80:341–7.
-
(1987)
J Clin Invest
, vol.80
, pp. 341-347
-
-
Patsch, J.R.1
Prasad, S.2
Gotto, A.M.3
Patsch, W.4
-
31
-
-
0025167797
-
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation
-
Wilson DE, Emi M, Iverius P-H, et al. Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. J Clin Invest 1990; 86:735–50.
-
(1990)
J Clin Invest
, vol.86
, pp. 735-750
-
-
Wilson, D.E.1
Emi, M.2
Iverius, P.-H.3
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