-
1
-
-
0001033625
-
Familial lipoprotein lipase deficiency and other causes of the familial chylomicronemic syndrome
-
Scriver CR, Beaudet AL, Sly W, Valle D, editors, New York: McGraw-Hill
-
Brunzell JD. Familial lipoprotein lipase deficiency and other causes of the familial chylomicronemic syndrome. In: Scriver CR, Beaudet AL, Sly W, Valle D, editors, 7th ed, Metabolic basis of inherited disease, New York: McGraw-Hill, 1995, pp. 1913-22.
-
(1995)
7th Ed, Metabolic Basis of Inherited Disease
, pp. 1913-1922
-
-
Brunzell, J.D.1
-
2
-
-
0028230993
-
High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: Possible association with apolipoprotein E2
-
Ma Y, 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. J Lipid Res 1994;35:1066-70.
-
(1994)
J Lipid Res
, vol.35
, pp. 1066-1070
-
-
Ma, Y.1
Ooi, T.C.2
Liu, M.S.3
-
3
-
-
0030032347
-
The lipoprotein lipase (Asn 291 → Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidemia
-
Hoffer MJV, Bredie SJH, Boomsma DI et al. The lipoprotein lipase (Asn 291 → Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidemia. Atherosclerosis 1996;119:159-67.
-
(1996)
Atherosclerosis
, vol.119
, pp. 159-167
-
-
Hoffer, M.J.V.1
Bredie, S.J.H.2
Boomsma, D.I.3
-
4
-
-
0029142759
-
A frequently occurring mutation in the lipoprotein lipase gene (Asn 291 → Ser) contributes to the expression of familial combined hyperlipidemia
-
Reymer PWA, Groenemeyer BE, Gagne E et al. A frequently occurring mutation in the lipoprotein lipase gene (Asn 291 → Ser) contributes to the expression of familial combined hyperlipidemia. Hum Mol Genet 1995;4:1543-9.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1543-1549
-
-
Reymer, P.W.A.1
Groenemeyer, B.E.2
Gagne, E.3
-
5
-
-
0029130943
-
Patients with apo E3 deficiency (E2/2, E3/2 and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291 → Ser mutations in the human LPL gene
-
Zhang H, Reymer PWA, Liu M-S et al. Patients with apo E3 deficiency (E2/2, E3/2 and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291 → Ser mutations in the human LPL gene. Arterioscler Thromb Vase Biol 1995;15:1695-703.
-
(1995)
Arterioscler Thromb Vase Biol
, vol.15
, pp. 1695-1703
-
-
Zhang, H.1
Reymer, P.W.A.2
Liu, M.-S.3
-
6
-
-
0028889944
-
Prevalence of alleles encoding defective lipoprotein lipase in hypertriglyceridemic patients of French Canadian descent
-
Minnich A, Kessling A, Roy M et al. Prevalence of alleles encoding defective lipoprotein lipase in hypertriglyceridemic patients of French Canadian descent. J Lipid Res 1995;36:117-24.
-
(1995)
J Lipid Res
, vol.36
, pp. 117-124
-
-
Minnich, A.1
Kessling, A.2
Roy, M.3
-
7
-
-
0031056318
-
Rarity of the Asn 291 → Ser mutation of lipoprotein lipase gene in Japanese NIDDM patients
-
Arai K, Kajimoto Y, Yamasaki Y. Rarity of the Asn 291 → Ser mutation of lipoprotein lipase gene in Japanese NIDDM patients. Diab Res Clin Pract 1997;34:181-2.
-
(1997)
Diab Res Clin Pract
, vol.34
, pp. 181-182
-
-
Arai, K.1
Kajimoto, Y.2
Yamasaki, Y.3
-
8
-
-
0014667974
-
Medical progress, medium chain triglyceride, physiologic considerations and clinical implication
-
Greenberg NJ, Skillman TG. Medical progress, medium chain triglyceride, physiologic considerations and clinical implication. N Engl J Med 1969;280:1045-58.
-
(1969)
N Engl J Med
, vol.280
, pp. 1045-1058
-
-
Greenberg, N.J.1
Skillman, T.G.2
-
9
-
-
0026466913
-
Type I hyperlipoproteinemia caused by lipoprotein lipase defect in lipid interface recognition was relieved by administration of medium chain triglyceride
-
Shirai K, Kobayashi J, Inadera H et al. Type I hyperlipoproteinemia caused by lipoprotein lipase defect in lipid interface recognition was relieved by administration of medium chain triglyceride. Metab Clin Exp 1992;41:1161-4.
-
(1992)
Metab Clin Exp
, vol.41
, pp. 1161-1164
-
-
Shirai, K.1
Kobayashi, J.2
Inadera, H.3
-
10
-
-
0018344230
-
Gel electric focusing method for specific diagnosis of familial hyperlipoproteinemia type 3
-
Warnick GR, Mayfield C, Albers JJ et al. Gel electric focusing method for specific diagnosis of familial hyperlipoproteinemia type 3. Clin Chem 1979;25:279-84.
-
(1979)
Clin Chem
, vol.25
, pp. 279-284
-
-
Warnick, G.R.1
Mayfield, C.2
Albers, J.J.3
-
11
-
-
0017671184
-
New micromethod for measuring cholesterol in plasma lipoprotein fractions
-
Bronzert TJ, Brewer Jr. HB. New micromethod for measuring cholesterol in plasma lipoprotein fractions. Clin Chem 1977;23:2089-98.
-
(1977)
Clin Chem
, vol.23
, pp. 2089-2098
-
-
Bronzert, T.J.1
Brewer H.B., Jr.2
-
12
-
-
0024446162
-
Lipoprotein lipase with a defect in lipid interface recognition in a case with type I hyperlipidemia
-
Kobayashi J, Shirai K, Saito Y et al. Lipoprotein lipase with a defect in lipid interface recognition in a case with type I hyperlipidemia. Eur J Clin Invest 1989;19:424-32.
-
(1989)
Eur J Clin Invest
, vol.19
, pp. 424-432
-
-
Kobayashi, J.1
Shirai, K.2
Saito, Y.3
-
13
-
-
0342750010
-
Detection and characterization of the heterozygous state for lipoprotein lipase deficiency
-
Babirak SP, Iveruis PH, Fujimoto WY et al. Detection and characterization of the heterozygous state for lipoprotein lipase deficiency. Arteriosclerosis 1989;9:5333-8.
-
(1989)
Arteriosclerosis
, vol.9
, pp. 5333-5338
-
-
Babirak, S.P.1
Iveruis, P.H.2
Fujimoto, W.Y.3
-
14
-
-
0027180105
-
Lipoprotein lipase mass and activity in severe hypertriglyceridemia
-
Kobayashi J, Hashimoto H, Fukamachi I et al. Lipoprotein lipase mass and activity in severe hypertriglyceridemia. Clin Chim Acta 1993;216:113-23.
-
(1993)
Clin Chim Acta
, vol.216
, pp. 113-123
-
-
Kobayashi, J.1
Hashimoto, H.2
Fukamachi, I.3
-
15
-
-
0030946073
-
Development of a direct sequencing method for detecting heterozygous mutations of the human lipoprotein lipase gene
-
Mori A, Takagi A, Ikeda Y et al. Development of a direct sequencing method for detecting heterozygous mutations of the human lipoprotein lipase gene. Clin Biochem 1997;30:315-24.
-
(1997)
Clin Biochem
, vol.30
, pp. 315-324
-
-
Mori, A.1
Takagi, A.2
Ikeda, Y.3
-
16
-
-
0025962224
-
Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome
-
Dichek HL, Fojo SS, Beg OU et al. Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome. J Biol Chem 1991;266:473-7.
-
(1991)
J Biol Chem
, vol.266
, pp. 473-477
-
-
Dichek, H.L.1
Fojo, S.S.2
Beg, O.U.3
-
17
-
-
0026046258
-
Amino acid substitution (Ile194 → Thr) in exon 5 of the lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin
-
Henderson HE, Ma Y, Hassan MF et al. Amino acid substitution (Ile194 → Thr) in exon 5 of the 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
-
18
-
-
0026611813
-
Trp64 → nonsense mutation in the lipoprotein lipase gene
-
Sprecher D, Kobayashi J, Rymaszewski M et al. Trp64 → nonsense mutation in the lipoprotein lipase gene. J Lipid Res 1992;33:859-66.
-
(1992)
J Lipid Res
, vol.33
, pp. 859-866
-
-
Sprecher, D.1
Kobayashi, J.2
Rymaszewski, M.3
-
19
-
-
0025062291
-
Structure of human pancreatic lipase
-
Winkler FK, D'Army A, Hunziker W Structure of human pancreatic lipase. Nature 1990;342:771-4.
-
(1990)
Nature
, vol.342
, pp. 771-774
-
-
Winkler, F.K.1
D'Army, A.2
Hunziker, W.3
-
20
-
-
0026802453
-
Chimeras of hepatic lipase and lipoprotein lipase: Domain localization of enzyme specific properties
-
Davis RC, Wong H, Nikazy J et al. Chimeras of hepatic lipase and lipoprotein lipase: domain localization of enzyme specific properties. J Biol Chem 1992;30:21499-504.
-
(1992)
J Biol Chem
, vol.30
, pp. 21499-21504
-
-
Davis, R.C.1
Wong, H.2
Nikazy, J.3
|