Kastelein JJ - Search Results

1

A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.

Funke H, von Eckardstein A, Pritchard PH, Albers JJ, Kastelein JJ, Droste C, Assmann G. Funke H, et al. Among authors: kastelein jj. Proc Natl Acad Sci U S A. 1991 Jun 1;88(11):4855-9. doi: 10.1073/pnas.88.11.4855. Proc Natl Acad Sci U S A. 1991. PMID: 2052566 Free PMC article.

2

Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent.

Kastelein JJ, Pritchard PH, Erkelens DW, Kuivenhoven JA, Albers JJ, Frohlich JJ. Kastelein JJ, et al. J Intern Med. 1992 Apr;231(4):413-9. doi: 10.1111/j.1365-2796.1992.tb00953.x. J Intern Med. 1992. PMID: 1588268

3

Two novel molecular defects in the LCAT gene are associated with fish eye disease.

Kuivenhoven JA, Stalenhoef AF, Hill JS, Demacker PN, Errami A, Kastelein JJ, Pritchard PH. Kuivenhoven JA, et al. Among authors: kastelein jj. Arterioscler Thromb Vasc Biol. 1996 Feb;16(2):294-303. doi: 10.1161/01.atv.16.2.294. Arterioscler Thromb Vasc Biol. 1996. PMID: 8620346 Free article. Review.

4

A unique genetic and biochemical presentation of fish-eye disease.

Kuivenhoven JA, van Voorst tot Voorst EJ, Wiebusch H, Marcovina SM, Funke H, Assmann G, Pritchard PH, Kastelein JJ. Kuivenhoven JA, et al. Among authors: kastelein jj. J Clin Invest. 1995 Dec;96(6):2783-91. doi: 10.1172/JCI118348. J Clin Invest. 1995. PMID: 8675648 Free PMC article.

5

An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).

Kuivenhoven JA, Weibusch H, Pritchard PH, Funke H, Benne R, Assmann G, Kastelein JJ. Kuivenhoven JA, et al. Among authors: kastelein jj. J Clin Invest. 1996 Jul 15;98(2):358-64. doi: 10.1172/JCI118800. J Clin Invest. 1996. PMID: 8755645 Free PMC article.

6

Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.

Wiebusch H, Funke H, Bruin T, Bucher H, von Eckardstein A, Kastelein JJ, Assmann G. Wiebusch H, et al. Among authors: kastelein jj. Hum Mutat. 1996;8(4):381-3. doi: 10.1002/(SICI)1098-1004(1996)8:4<381::AID-HUMU16>3.0.CO;2-Z. Hum Mutat. 1996. PMID: 8956048 No abstract available.

7

The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.

Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J. Kuivenhoven JA, et al. J Lipid Res. 1997 Feb;38(2):191-205. J Lipid Res. 1997. PMID: 9162740 Free article. Review.

8

Lipid-free apolipoprotein (apo) A-I is converted into alpha-migrating high density lipoproteins by lipoprotein-depleted plasma of normolipidemic donors and apo A-I-deficient patients but not of Tangier disease patients.

von Eckardstein A, Huang Y, Kastelein JJ, Geisel J, Real JT, Kuivenhoven JA, Miccoli R, Noseda G, Assmann G. von Eckardstein A, et al. Among authors: kastelein jj. Atherosclerosis. 1998 May;138(1):25-34. doi: 10.1016/s0021-9150(97)00280-3. Atherosclerosis. 1998. PMID: 9678768

9

Plasma and fibroblasts of Tangier disease patients are disturbed in transferring phospholipids onto apolipoprotein A-I.

von Eckardstein A, Chirazi A, Schuler-Lüttmann S, Walter M, Kastelein JJ, Geisel J, Real JT, Miccoli R, Noseda G, Höbbel G, Assmann G. von Eckardstein A, et al. Among authors: kastelein jj. J Lipid Res. 1998 May;39(5):987-98. J Lipid Res. 1998. PMID: 9610765 Free article.

10

Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency.

Bijvoet SM, Wiebusch H, Ma Y, Reymer PW, Bruin T, Bakker HD, Funke H, Assmann G, Hayden MR, Kastelein JJ. Bijvoet SM, et al. Among authors: kastelein jj. Neth J Med. 1996 Nov;49(5):189-95. doi: 10.1016/0300-2977(96)00043-5. Neth J Med. 1996. PMID: 8973094

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

905 results

Search Page

Filters