Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model: “When the wine goes in, strange things come out” – S.T. Coleridge, The Piccolomini...

بواسطة Binkhorst, M., Wortmann, S. B., Funke, S., Kozicz, T., Wevers, R. A., Morava, E.
منشور في 2011

Muscle tissue oxygenation as a functional tool in the follow up of dermatomyositis

بواسطة van Beekvelt, M C P, Wevers, R, van Engelen, B G M, Colier, W
منشور في 2002

Vitamin B12 and folate concentrations in serum and cerebrospinal fluid of neurological patients with special reference to multiple sclerosis and dementia.

بواسطة Nijst, T Q, Wevers, R A, Schoonderwaldt, H C, Hommes, O R, de Haan, A F
منشور في 1990

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

بواسطة Redonnet-Vernhet, I, Ploos van Amstel, J K, Jansen, R P, Wevers, R A, Salvayre, R, Levade, T
منشور في 1996

Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency.

بواسطة Poels, P J, Wevers, R A, Braakhekke, J P, Benders, A A, Veerkamp, J H, Joosten, E M
منشور في 1993

The short-term effect of an immunosuppressive treatment on CSF myelin basic protein in chronic progressive multiple sclerosis.

بواسطة Lamers, K J, Uitdehaag, B M, Hommes, O R, Doesburg, W, Wevers, R A, von Geel, W J
منشور في 1988

Phenotypic expression in mucopolysaccharidosis VII.

بواسطة Bernsen, P L, Wevers, R A, Gabreëls, F J, Lamers, K J, Sonnen, A E, Stekhoven, J H
منشور في 1987

Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system.

بواسطة Wevers, R A, Hansen, S I, van Hellenberg Hubar, J L, Holm, J, Høier-Madsen, M, Jongen, P J
منشور في 1994

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

بواسطة Vervoort, R, Islam, M R, Sly, W, Chabas, A, Wevers, R, de Jong, J, Liebaers, I, Lissens, W
منشور في 1995

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

بواسطة Burda, P, Borsig, L, de Rijk-van Andel, J, Wevers, R, Jaeken, J, Carchon, H, Berger, E G, Aebi, M
منشور في 1998

Deficiency of Na+/K(+)-ATPase and sarcoplasmic reticulum Ca(2+)-ATPase in skeletal muscle and cultured muscle cells of myotonic dystrophy patients.

بواسطة Benders, A A, Timmermans, J A, Oosterhof, A, Ter Laak, H J, van Kuppevelt, T H, Wevers, R A, Veerkamp, J H
منشور في 1993

Early life adversity and serotonin transporter gene variation interact at the level of the adrenal gland to affect the adult hypothalamo-pituitary-adrenal axis

بواسطة van der Doelen, R H A, Deschamps, W, D'Annibale, C, Peeters, D, Wevers, R A, Zelena, D, Homberg, J R, Kozicz, T
منشور في 2014

Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil.

بواسطة Benders, A A, Veerkamp, J H, Oosterhof, A, Jongen, P J, Bindels, R J, Smit, L M, Busch, H F, Wevers, R A
منشور في 1994

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

بواسطة Schollen, E, Frank, C, Keldermans, L, Reyntjens, R, Grubenmann, C, Clayton, P, Winchester, B, Smeitink, J, Wevers, R, Aebi, M, Hennet, T, Matthijs, G
منشور في 2004

DBH gene variants that cause low plasma dopamine ß hydroxylase with or without a severe orthostatic syndrome

بواسطة Deinum, J, Steenbergen-Spanj..., G, Jansen, M, Boomsma, F, Lenders, J, van Ittersum, F J, Huck, N, van den Heuvel, L P, Wevers, R
منشور في 2004

Clinical features, lectin staining, and a novel GNE frameshift mutation in HIBM

بواسطة Voermans, Nicol C., Guillard, M., Doedée, R., Lammens, M., Huizing, Marjan, Padberg, G.W., Wevers, R.A., van Engelen, B.G., Lefeber, D.J.
منشور في 2010

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

بواسطة Waterham, H R, Wijburg, F A, Hennekam, R C, Vreken, P, Poll-The, B T, Dorland, L, Duran, M, Jira, P E, Smeitink, J A, Wevers, R A, Wanders, R J
منشور في 1998

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

بواسطة van de Kamp, J M, Lefeber, D J, Ruijter, G J G, Steggerda, S J, den Hollander, N S, Willems, S M, Matthijs, G, Poorthuis, B J H M, Wevers, R A
منشور في 2007

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency

بواسطة Van Hove, J L K, Steyaert, J, Matthijs, G, Legius, E, Theys, P, Wevers, R, Romstad, A, Møller, L B, Hedrich, K, Goriounov, D, Blau, N, Klein, C, Casaer, P
منشور في 2006

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

بواسطة Mochel, F, Engelke, U F.H., Barritault, J, Yang, B, McNeill, N H., Thompson, J N., Vanderver, A, Wolf, N I., Willemsen, M A., Verheijen, F W., Seguin, F, Wevers, R A., Schiffmann, R
منشور في 2010