Zobrazeno 1 - 10
of 36
pro vyhledávání: '"R A, Wevers"'
Autor:
B, Sjouke, J W J, van der Stappen, J E M, Groener, A, Pepping, R A, Wevers, A, Gouw, L D, Dikkeschei, S, Mijnhout, G K, Hovingh, M A, Alleman
Publikováno v:
The Netherlands journal of medicine. 73(3)
Cholesteryl ester storage disease (CESD) is a rare autosomal recessive disease caused by mutations in LIPA. Here we describe two different clinical presentations of this disease: one case with a clear phenotype of familial hypercholesterolaemia and o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aaf98a4817a0e108f0c431169719565a
https://pubmed.ncbi.nlm.nih.gov/25852113
https://pubmed.ncbi.nlm.nih.gov/25852113
Autor:
N C, Voermans, M, Guillard, R, Doedée, M, Lammens, M, Huizing, G W, Padberg, R A, Wevers, B G, van Engelen, D J, Lefeber
Publikováno v:
Clinical neuropathology. 29(2)
We present a comprehensive report of two siblings with hereditary inclusion body myopathy (HIBM). The clinical features and histological characteristics of the muscle biopsies showed the typical pattern of predominantly distal vacuolar myopathy with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ab70a9f304ffee3ed63645a37c7b9c32
https://pubmed.ncbi.nlm.nih.gov/20175955
https://pubmed.ncbi.nlm.nih.gov/20175955
Autor:
J, Deinum, A H, van den Meiracker, F, Boomsma, F J, van Ittersum, R A, Wevers, J W M, Lenders
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 148(36)
The DBH gene encodes dopamine-beta-hydroxylase (DbetaH), the enzyme that catalyses the formation of norepinephrine from dopamine. Inactivation of this enzyme due to a mutation of the DBH gene causes a selective (nor)-adrenergic failure of the sympath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::71a08e63e20e821974b4980c4ce7b48f
https://pubmed.ncbi.nlm.nih.gov/15495941
https://pubmed.ncbi.nlm.nih.gov/15495941
Autor:
P M W, Janssens, A N, de Groot, J G, de Jong, M L, Liebrand-van Sambeek, A, Smits, R A, Wevers
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 148(6)
As a result of the decreased incidence of immunological hydrops fetalis and increased insight, the role of inborn errors of metabolism (IEM) as a cause of hydrops fetalis has acquired increased significance. This growing awareness of the manifestatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1c7c49d356acc2b1e3ce923b327e1197
https://pubmed.ncbi.nlm.nih.gov/15004952
https://pubmed.ncbi.nlm.nih.gov/15004952
Autor:
T A, Korolenko, S J, Djanayeva, O V, Falameyeva, R A, Wevers, E E, Filjushina, I I, Buzueva, V I, Kaledin, J, Sandula, J, Nowicky
Publikováno v:
Drugs under experimental and clinical research. 26(5-6)
Ukrain has previously been demonstrated to exert a malignotoxic effect in vivo. This antitumor drug has been effective in the treatment of some malignancies in experimental animals as a result of immunostimulation (macrophage stimulation). In the pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ae62bb241b5e341ef70936275742b22c
https://pubmed.ncbi.nlm.nih.gov/11345039
https://pubmed.ncbi.nlm.nih.gov/11345039
Autor:
P. E. JIRA, R. J. A. WANDERS, J. A. M. SMEITINK, J. JONG, R. A. WEVERS, W. OOSTHEIM, J. H. A. M. TUERLINGS, R. C. M. HENNEKAM, R. C. A. SENGERS, H. R. WATERHAM
Publikováno v:
Annals of human genetics, 65(Part 3), 229-236. Wiley-Blackwell
Annals of Human Genetics, 65, Pt 3, pp. 229--36
Annals of Human Genetics, 65, 229--36
Annals of Human Genetics, 65, Pt 3, pp. 229--36
Annals of Human Genetics, 65, 229--36
Item does not contain fulltext Smith--Lemli--Opitz syndrome (SLOS) is caused by mutations in the DHCR7 gene leading to deficient activity of 7-dehydrocholesterol reductase (DHCR7; EC 1.3.1.21), the final enzyme of the cholesterol biosynthetic pathway
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68cf521b99e5269ceac5d7dcec78aec4
https://doi.org/10.1046/j.1469-1809.2001.6530229.x
https://doi.org/10.1046/j.1469-1809.2001.6530229.x
Autor:
P E, Jira, R J, Wanders, J A, Smeitink, J, De Jong, R A, Wevers, W, Oostheim, J H, Tuerlings, R C, Hennekam, R C, Sengers, H R, Waterham
Publikováno v:
Annals of human genetics. 65(Pt 3)
Smith--Lemli--Opitz syndrome (SLOS) is caused by mutations in the DHCR7 gene leading to deficient activity of 7-dehydrocholesterol reductase (DHCR7; EC 1.3.1.21), the final enzyme of the cholesterol biosynthetic pathway, resulting in low cholesterol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::569cc345af474b1368c5257d28183d38
https://pubmed.ncbi.nlm.nih.gov/11427181
https://pubmed.ncbi.nlm.nih.gov/11427181
Autor:
E A, Boss, S H, Moolenaar, L F, Massuger, H, Boonstra, U F, Engelke, J G, de Jong, R A, Wevers
Publikováno v:
NMR in biomedicine. 13(5)
Most ovarian tumors are cystic structures containing variable amounts of fluid. Several studies of ovarian cyst fluid focus on one specific metabolite using conventional assay systems. We examined the potential of (1)H-nuclear magnetic resonance spec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2639b5199dfb7265ee29662820011586
https://pubmed.ncbi.nlm.nih.gov/10960920
https://pubmed.ncbi.nlm.nih.gov/10960920
Autor:
P E, Jira, R A, Wevers, J, de Jong, E, Rubio-Gozalbo, F S, Janssen-Zijlstra, A F, van Heyst, R C, Sengers, J A, Smeitink
Publikováno v:
Journal of lipid research. 41(8)
The Smith-Lemli-Opitz syndrome (SLOS) is caused by deficient Delta(7)-dehydrocholesterol reductase, which catalyzes the final step of the cholesterol biosynthetic pathway, resulting in low cholesterol and high concentrations of its direct precursors
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::50535bec5706b2128a84a3495b2ee756
https://pubmed.ncbi.nlm.nih.gov/10946022
https://pubmed.ncbi.nlm.nih.gov/10946022
Autor:
S, Grünewald, T, Imbach, K, Huijben, M E, Rubio-Gozalbo, A, Verrips, J B, de Klerk, H, Stroink, J F, de Rijk-van Andel, J L, Van Hove, U, Wendel, G, Matthijs, T, Hennet, J, Jaeken, R A, Wevers
Publikováno v:
Annals of neurology. 47(6)
We report on 8 patients with a recently described novel subtype of congenital disorder of glycosylation type Ic (CDG-Ic). Their clinical presentation was mainly neurological with developmental retardation, muscular hypotonia, and epilepsy. Several sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ceb651b7d81f96e1a6348ade5d8a8d0d
https://pubmed.ncbi.nlm.nih.gov/10852543
https://pubmed.ncbi.nlm.nih.gov/10852543