-
1
-
-
0001033625
-
Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome
-
Scriver CR. Beadudet AL, Sly WS, et al., eds. New York: McGraw-Hill
-
Brunzell JD. Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In: Scriver CR. Beadudet AL, Sly WS, et al., eds. The Metabolic Bases of Inherited Disease. 7th ed. Vol. 2. New York: McGraw-Hill. 1995:1913-1932.
-
(1995)
The Metabolic Bases of Inherited Disease. 7th Ed.
, vol.2
, pp. 1913-1932
-
-
Brunzell, J.D.1
-
3
-
-
0027227835
-
Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis and non-insulin dependent diabetes
-
Wilson DE, Hata A, Kwong LK, et al. Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis and non-insulin dependent diabetes. J Clin Invest. 1993;92:203-211.
-
(1993)
J Clin Invest
, vol.92
, pp. 203-211
-
-
Wilson, D.E.1
Hata, A.2
Kwong, L.K.3
-
4
-
-
0028214675
-
A compound heterozygote for lipoprotein lipase deficiency, Val 69-Leu and Gly 188-Glu: Correlation between LPL activity und clinical expression
-
Bruin T, Tuzgol S, Mulder WJ, et al. A compound heterozygote for lipoprotein lipase deficiency, Val 69-Leu and Gly 188-Glu: correlation between LPL activity und clinical expression. J Lipid Res. 1994;35:438-245.
-
(1994)
J Lipid Res
, vol.35
, pp. 438-245
-
-
Bruin, T.1
Tuzgol, S.2
Mulder, W.J.3
-
5
-
-
0028230993
-
High frequency of mutations in the human lipoprotein lipase gene in pregnancy induced chylomicronemia: Possible association with apolipoprotein E2 isoform
-
Ma YH, Ooi TC, Liu MS, et al. High frequency of mutations in the human lipoprotein lipase gene in pregnancy induced chylomicronemia: possible association with apolipoprotein E2 isoform. J Lipid Res. 1994;35:1066-1072
-
(1994)
J Lipid Res
, vol.35
, pp. 1066-1072
-
-
Ma, Y.H.1
Ooi, T.C.2
Liu, M.S.3
-
6
-
-
0030022522
-
Hyperlipidemia and puncreatitis during pregnancy in two sisters with a mutation in the lipoprotein lipase gene
-
Kielson LM, Vary CP, Sprecher DL, et al. Hyperlipidemia and puncreatitis during pregnancy in two sisters with a mutation in the lipoprotein lipase gene. Ann Intern Med. 1996;124:425-428.
-
(1996)
Ann Intern Med
, vol.124
, pp. 425-428
-
-
Kielson, L.M.1
Vary, C.P.2
Sprecher, D.L.3
-
7
-
-
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;1:138-144.
-
(1987)
Genomics
, vol.1
, pp. 138-144
-
-
Sparkes, R.S.1
Zollman, S.2
Klisak, I.3
-
8
-
-
0023090942
-
Human lipoprotein lipase complementary DNA sequence
-
Wion KL, Kirchgessncr TG, Lusis AJ, et al. Human lipoprotein lipase complementary DNA sequence. Science. 1987;235:1638-1641.
-
(1987)
Science
, vol.235
, pp. 1638-1641
-
-
Wion, K.L.1
Kirchgessncr, T.G.2
Lusis, A.J.3
-
9
-
-
0026580349
-
Structure and functional properties of lipoprotein iipase
-
Wang CS, Hartsuck J, McConathy WJ. Structure and functional properties of lipoprotein iipase. BBA. 1992;1123:1-17.
-
(1992)
BBA
, vol.1123
, pp. 1-17
-
-
Wang, C.S.1
Hartsuck, J.2
McConathy, W.J.3
-
10
-
-
0029047717
-
A lipoprotein lipase gene mutation (Asn291Ser) is associated with reduced HDL cholesterol level in premature atherosclerosis
-
Reymer PWA, Gagne E, Groenemeyer BE, et al. A lipoprotein lipase gene mutation (Asn291Ser) is associated with reduced HDL cholesterol level in premature atherosclerosis. Nat Genet. 1995;10:28-36.
-
(1995)
Nat Genet
, vol.10
, pp. 28-36
-
-
Reymer, P.W.A.1
Gagne, E.2
Groenemeyer, B.E.3
-
11
-
-
0030752544
-
Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations
-
Gerdes C, Fisher RM, Nicaud V, et al. Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations. Circulation. 1997;96:733-740.
-
(1997)
Circulation
, vol.96
, pp. 733-740
-
-
Gerdes, C.1
Fisher, R.M.2
Nicaud, V.3
-
12
-
-
0030056398
-
Molecular photobiology of the lipoprotein lipase gene
-
Murthy V, Julien P, Gagne C. Molecular photobiology of the lipoprotein lipase gene. Pharmacol Therapeut. 1996;70:101-135.
-
(1996)
Pharmacol Therapeut
, vol.70
, pp. 101-135
-
-
Murthy, V.1
Julien, P.2
Gagne, C.3
-
13
-
-
0041587503
-
Amino acid substitution (Ile194-Thr) in exon 5 of the lipoprotein gene causes lipoprotein lipase deficiency in three unrelated probands
-
Henderson HE, Ma YH, Hassan MF, et al. Amino acid substitution (Ile194-Thr) in exon 5 of the lipoprotein gene causes lipoprotein lipase deficiency in three unrelated probands. Crit Invest. 1991;87:2011.
-
(1991)
Crit Invest
, vol.87
, pp. 2011
-
-
Henderson, H.E.1
Ma, Y.H.2
Hassan, M.F.3
-
14
-
-
0025811179
-
Familial hyperchylomicronemia due to a single missense mutation in the lipoprotein lipase gene
-
Ameis D, Kobayashi J, Davis RC, et al. Familial hyperchylomicronemia due to a single missense mutation in the lipoprotein lipase gene. J Clin Invest. 1991;87:1165-1170.
-
(1991)
J Clin Invest
, vol.87
, pp. 1165-1170
-
-
Ameis, D.1
Kobayashi, J.2
Davis, R.C.3
-
15
-
-
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;86:728-734.
-
(1990)
J Clin Invest
, vol.86
, pp. 728-734
-
-
Monsalve, M.V.1
Henderson, H.2
Roederer, G.3
-
16
-
-
0026733335
-
Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization
-
Hata A, Ridinger DN, Sutherland SD, et al. Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization. J Biol Chem. 1992;267:20132-20139.
-
(1992)
J Biol Chem
, vol.267
, pp. 20132-20139
-
-
Hata, A.1
Ridinger, D.N.2
Sutherland, S.D.3
-
17
-
-
0026611411
-
A missense mutation (Asp250Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries
-
Ma YH, Wilson BI, Bijvoet S, et al. A missense mutation (Asp250Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries. Genomics. 1992;13:649-653.
-
(1992)
Genomics
, vol.13
, pp. 649-653
-
-
Ma, Y.H.1
Wilson, B.I.2
Bijvoet, S.3
-
18
-
-
0026428636
-
A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians
-
Ma YH, Henderson HE, Murthy V, et al. A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians. N Engl J Med 1991;324:1761-1766.
-
(1991)
N Engl J Med
, vol.324
, pp. 1761-1766
-
-
Ma, Y.H.1
Henderson, H.E.2
Murthy, V.3
-
19
-
-
0032753522
-
Newly identified missense mutation reduces lipoprotein lipase activity in Taiwanese patients with hypertriglyceridemia
-
Kao JT, Hsiao WH, Yu CJ, et al. Newly identified missense mutation reduces lipoprotein lipase activity in Taiwanese patients with hypertriglyceridemia. J Formos Med Assoc. 1999;98:606-612.
-
(1999)
J Formos Med Assoc
, vol.98
, pp. 606-612
-
-
Kao, J.T.1
Hsiao, W.H.2
Yu, C.J.3
-
20
-
-
0027253053
-
Support for founder effect for two lipoprotein lipase(LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene
-
Wood S, Schertzer M, Hayden M, et al. Support for founder effect for two lipoprotein lipase(LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene. Hum Genet. 1993;91:312-316.
-
(1993)
Hum Genet
, vol.91
, pp. 312-316
-
-
Wood, S.1
Schertzer, M.2
Hayden, M.3
-
21
-
-
0032976788
-
Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients
-
Okubo M, Inoue S, Horinishi A, et al. Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients. Atherosclerosis. 1999;144:443-447.
-
(1999)
Atherosclerosis
, vol.144
, pp. 443-447
-
-
Okubo, M.1
Inoue, S.2
Horinishi, A.3
-
22
-
-
0026344120
-
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency
-
Gotoda T, Yamada N, Kawamura M, et al. Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. J Clin Invest. 1991;88:1856-864.
-
(1991)
J Clin Invest
, vol.88
, pp. 1856-1864
-
-
Gotoda, T.1
Yamada, N.2
Kawamura, M.3
-
23
-
-
0033984707
-
Compound heterozygosity of Leu252Val and Leu252Arg causing lipoprotein lipase deficiency in a Chinese patient with hypertriglyceridemia
-
Chan L, Mak Y, Tomlinson B, et al. Compound heterozygosity of Leu252Val and Leu252Arg causing lipoprotein lipase deficiency in a Chinese patient with hypertriglyceridemia. Eur J Clin Invest. 2000;30:33-40.
-
(2000)
Eur J Clin Invest
, vol.30
, pp. 33-40
-
-
Chan, L.1
Mak, Y.2
Tomlinson, B.3
-
24
-
-
0036724934
-
Genotype-phenotype studies of six novel LPL mututions in Chinese patients with hypertriglyceridemia
-
Chan L, Lam CW, Mak YT, et al. Genotype-phenotype studies of six novel LPL mututions in Chinese patients with hypertriglyceridemia. Hum Mut. 2002;20:232-233.
-
(2002)
Hum Mut
, vol.20
, pp. 232-233
-
-
Chan, L.1
Lam, C.W.2
Mak, Y.T.3
-
25
-
-
15844426908
-
Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency
-
Bijvoet S, Gagne SE, Moorgani S, et al. Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency. J Lip Res. 1996;37:640-650.
-
(1996)
J Lip Res
, vol.37
, pp. 640-650
-
-
Bijvoet, S.1
Gagne, S.E.2
Moorgani, S.3
-
26
-
-
0027299427
-
Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient for a Ser172 to Cys mutation in the lipoprotein lipase gene
-
Ma YH, Liu MS, Ginzinger D, et al. Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient for a Ser172 to Cys mutation in the lipoprotein lipase gene. J Clin Invest 1993;91:1953-1958.
-
(1993)
J Clin Invest
, vol.91
, pp. 1953-1958
-
-
Ma, Y.H.1
Liu, M.S.2
Ginzinger, D.3
-
27
-
-
0043090301
-
Lipoprotein lipase deficiency
-
Jap TS, Jenq SF, Wu YC, et al. Lipoprotein lipase deficiency. Hum Genet. 1999;104:289.
-
(1999)
Hum Genet
, vol.104
, pp. 289
-
-
Jap, T.S.1
Jenq, S.F.2
Wu, Y.C.3
-
28
-
-
0033776844
-
Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levels
-
Razzaghi H, Aston CE, Hamman RF, et al. Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levels. Hum Genet 2000;107:257-267.
-
(2000)
Hum Genet
, vol.107
, pp. 257-267
-
-
Razzaghi, H.1
Aston, C.E.2
Hamman, R.F.3
-
29
-
-
16944366335
-
Familial lipoprotein lipase (LPL) deficiency: A catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden and Italy
-
Mailly F, Palmen J, Muller DPR. Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden and Italy. Hum Mutat. 1997;10:465-473.
-
(1997)
Hum Mutat
, vol.10
, pp. 465-473
-
-
Mailly, F.1
Palmen, J.2
Muller, D.P.R.3
|