Výsledky vyhledávání - "J. C. Defesche"

APOE1 mutation in a patient with type III hyperlipoproteinaemia: detailed genetic analysis required

Autor: M E, Visser, G M, Dallinga-Thie, S J, Pinto-Sietsma, J C, Defesche, E S, Stroes, P R, van der Valk

Publikováno v: The Netherlands journal of medicine. 70(6)

We present the case of a patient with clinical features of familial dysbetalipoproteinaemia (FD) including high levels of total cholesterol, hypertriglyceridaemia and the presence of palmar xanthomas. Whereas genotype analysis identified the APOE3E3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3a8223b26ee2e0f7565d5b636a83e3a2
https://pubmed.ncbi.nlm.nih.gov/23412827

Zobrazit plný text záznamu

An unusual variant of Becker muscular dystrophy

Autor: G.J.B. van Ommen, J. C. Defesche, Pieter A. Bolhuis, M. de Visser, Egbert Bakker

Publikováno v: Annals of neurology, 27(5), 578-581. John Wiley and Sons Inc.

We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's bi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b990c6edbc69ec197f499828bf19b9be
https://doi.org/10.1002/ana.410270521

Zobrazit plný text záznamu

Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia

Autor: J.J.P. Kastelein, J. C. Defesche, P. R. W. De Sauvage Nolting, P. J. Lansberg, Rudolf J.A Buirma, Barbara A. Hutten

Publikováno v: Journal of internal medicine, 253(2), 161-168. Wiley-Blackwell

de Sauvage Nolting PRW, Defesche JC, Buirma RJA, Hutten BA, Lansberg PJ, Kastelein JJP (Academic Medical Center, Amsterdam; Clinical Research, Haarlem; Slotervaart Hospital, Amsterdam; the Netherlands). Prevalence and significance of cardiovascular r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05c0f14ff10c6046416a1eb0f1543374
https://pubmed.ncbi.nlm.nih.gov/12542556

Zobrazit plný text záznamu

Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study

Autor: E J, Sijbrands, R G, Westendorp, J C, Defesche, P H, de Meier, A H, Smelt, J J, Kastelein

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

Zobrazit plný text záznamu

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

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

Zobrazit plný text záznamu

[Higher prevalence of familial hypercholesterolemia than expected in adult patients of four family practices in Netherlands]

Autor: P J, Lansberg, S, Tuzgöl, M A, van de Ree, J C, Defesche, J J, Kastelein

Publikováno v: Nederlands tijdschrift voor geneeskunde. 144(30)

To determine the prevalence of familial hypercholesterolaemia (FH).Patient record screening, questionnaire and if necessary, case finding.Over the period mid-1990-mid-1992 (approximately 2.5 years) 8,800 adult individuals (age 18 years and over) in 4

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0ed8bf3176278d10aa828b888307ad45
https://pubmed.ncbi.nlm.nih.gov/10932696

Zobrazit plný text záznamu

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands

Autor: M P, Lombardi, E J, Redeker, J C, Defesche, S W, Kamerling, M D, Trip, M M, Mannens, L M, Havekes, J J, Kastelein

Publikováno v: Clinical genetics. 57(2)

Mutations in the LDL receptor are responsible for familial hypercholesterolemia (FH). At present, more than 600 mutations of the LDL receptor gene are known to underlie FH. However, the array of mutations varies considerably in different populations.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::05995349c940d7556aadcf5b4c87ff4d
https://pubmed.ncbi.nlm.nih.gov/10735632

Zobrazit plný text záznamu

[Tracing of patients with familial hypercholesterolemia in the Netherlands]

Autor: M A, Umans-Eckenhausen, J C, Defesche, R L, Scheerder, F, Cliné, J J, Kastelein

Publikováno v: Nederlands tijdschrift voor geneeskunde. 143(22)

To inventory the possibilities of tracing relatives of patients with familial hypercholesterolaemia (FH) by means of family tree research and DNA diagnostics.Descriptive.Blood from patients with the clinical diagnosis of 'FH' was sent, through one of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5cea83de6b1c4b3d154ba7197f383c2f
https://pubmed.ncbi.nlm.nih.gov/10371839

Zobrazit plný text záznamu

[Is detection and treatment of familial hypercholesterolemia indicated in children?]

Autor: H D, Bakker, A, Wiegman, J C, Defesche, J J, Kastelein

Publikováno v: Nederlands tijdschrift voor geneeskunde. 141(52)

Familial hypercholesterolaemia (FH) is a congenital metabolic disorder predisposing to severe atherosclerosis resulting in coronary heart disease sometimes even at early adult age. Children with FH lack the stigmata at physical examination and measur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::988d1d9789c9a3e86e6e7c188dc2ec56
https://pubmed.ncbi.nlm.nih.gov/9555154

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání