Zobrazeno 1 - 10
of 68
pro vyhledávání: '"J J, Kastelein"'
Autor:
Y Y van der Hoek, R J Wanders, A E van den Ende, H G Kraft, B R Gabel, J J Kastelein, M L Koschinsky
Publikováno v:
Journal of Lipid Research, Vol 38, Iss 8, Pp 1612-1619 (1997)
Peroxisomal disorders arise either from defects in the biogenesis of peroxisomes or from the defective synthesis of one or more peroxisomal enzymes. These defects result in metabolic disturbances in peroxisomal beta-oxidation of various fatty acids a
Externí odkaz:
https://doaj.org/article/1ea84fc30a2b4cd1a3ce84d902af22d8
Autor:
S Bijvoet, S E Gagné, S Moorjani, C Gagné, H E Henderson, J C Fruchart, J Dallongeville, P Alaupovic, M Prins, J J Kastelein, M R Hayden
Publikováno v:
Journal of Lipid Research, Vol 37, Iss 3, Pp 640-650 (1996)
We have assessed the expression of heterozygosity for lipoprotein lipase (LPL) deficiency by studying a single large French Canadian family comprising 92 persons including 21 carriers of the catalytically defective P207L mutation. Phenotypic changes
Externí odkaz:
https://doaj.org/article/f6d46694496c48ba8ee491d845205a23
Autor:
P Lombardi, E J Sijbrands, K van de Giessen, A H Smelt, J J Kastelein, R R Frants, L M Havekes
Publikováno v:
Journal of Lipid Research, Vol 36, Iss 4, Pp 860-867 (1995)
Familial hypercholesterolemia (FH) results from mutations in the low density lipoprotein receptor (LDLR) gene. We applied denaturing gradient gel electrophoresis (DGGE) to screen for sequence variations in the coding and splice site consensus sequenc
Externí odkaz:
https://doaj.org/article/1db1e2cb6d474bea9a1b9a9b0516e091
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 148(10)
In the Netherlands, people with familial hypercholesterolaemia (FH) have been actively screened since 1994 by means of DNA analysis. Recently, the Stichting Opsporing Erfelijke Hypercholesterolemie (Foundation for the Detection of Familial Hyperchole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0287619b520e090cc2b1de77f4b335f0
https://pubmed.ncbi.nlm.nih.gov/15042898
https://pubmed.ncbi.nlm.nih.gov/15042898
Publikováno v:
Clinical and experimental rheumatology. 21(4)
Upper extremity angiography can make an important contribution to the diagnosis in vasculopathy. The present study was designed to assess the diagnostic role of upper extremity angiography in patients with disturbed circulation of the hand, according
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7f6b85643647330ffdeba2b2f17c3c1f
https://pubmed.ncbi.nlm.nih.gov/12942695
https://pubmed.ncbi.nlm.nih.gov/12942695
Publikováno v:
Clinical genetics. 60(4)
Linkage of the lipoprotein lipase (LPL) gene to blood pressure levels has been reported. The LPL S447X single nucleotide polymorphism (cSNP) has been associated with decreased triglycerides (TG), increased high density lipoprotein cholesterol, and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7489b6b6892ef754b3ef316f969c9bd4
https://pubmed.ncbi.nlm.nih.gov/11683775
https://pubmed.ncbi.nlm.nih.gov/11683775
Publikováno v:
BMJ (Clinical research ed.). 322(7293)
To estimate all cause mortality from untreated familial hypercholesterolaemia free from selection for coronary artery disease.Family tree mortality study.Large pedigree in Netherlands traced back to a single pair of ancestors in the 19th century.All
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3472b338ada032878d3334666f3c4f4a
https://pubmed.ncbi.nlm.nih.gov/11325764
https://pubmed.ncbi.nlm.nih.gov/11325764
Autor:
J J, Kastelein, J W, Jukema, A H, Zwinderman, S, Clee, A J, van Boven, H, Jansen, T J, Rabelink, R J, Peters, K I, Lie, G, Liu, A V, Bruschke, M R, Hayden
Publikováno v:
Circulation. 102(14)
Raised triglyceride-rich lipoproteins significantly increase the risk for cardiovascular disease. Variation in the activity of the enzyme lipoprotein lipase (LPL), which is crucial in the removal of these lipoproteins, may therefore modulate this ris
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c117a84e87dfdb9db786839e51ef4893
https://pubmed.ncbi.nlm.nih.gov/11015333
https://pubmed.ncbi.nlm.nih.gov/11015333
Autor:
K L, Khoo, P, van Acker, J C, Defesche, H, Tan, L, van de Kerkhof, S J, Heijnen-van Eijk, J J, Kastelein, J P, Deslypere
Publikováno v:
Clinical genetics. 58(2)
The aim of this study was to detect mutations in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in patients of Southeast Asian origin with clinically diagnosed familial hypercholesterolemia (FH) and to relate these fin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d0bc4401abefff4262bfb34e90398087
https://pubmed.ncbi.nlm.nih.gov/11005141
https://pubmed.ncbi.nlm.nih.gov/11005141
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 144(30)
A man aged 35 and a woman aged 30 visited a lipid clinic because of a raised total cholesterol level, which was also present in a number of first-degree relatives. Apart from the lipid abnormalities they had no risk factors for coronary disease. Both
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ba409f0520980e89b23530b6d8a07ebb
https://pubmed.ncbi.nlm.nih.gov/11004957
https://pubmed.ncbi.nlm.nih.gov/11004957