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...

Por Binkhorst, M., Wortmann, S. B., Funke, S., Kozicz, T., Wevers, R. A., Morava, E.
Publicado em 2011

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

Por Nijst, T Q, Wevers, R A, Schoonderwaldt, H C, Hommes, O R, de Haan, A F
Publicado em 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.

Por Redonnet-Vernhet, I, Ploos van Amstel, J K, Jansen, R P, Wevers, R A, Salvayre, R, Levade, T
Publicado em 1996

Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency.

Por Poels, P J, Wevers, R A, Braakhekke, J P, Benders, A A, Veerkamp, J H, Joosten, E M
Publicado em 1993

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

Por Lamers, K J, Uitdehaag, B M, Hommes, O R, Doesburg, W, Wevers, R A, von Geel, W J
Publicado em 1988

Phenotypic expression in mucopolysaccharidosis VII.

Por Bernsen, P L, Wevers, R A, Gabreëls, F J, Lamers, K J, Sonnen, A E, Stekhoven, J H
Publicado em 1987

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

Por Wevers, R A, Hansen, S I, van Hellenberg Hubar, J L, Holm, J, Høier-Madsen, M, Jongen, P J
Publicado em 1994

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

Por Benders, A A, Timmermans, J A, Oosterhof, A, Ter Laak, H J, van Kuppevelt, T H, Wevers, R A, Veerkamp, J H
Publicado em 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

Por van der Doelen, R H A, Deschamps, W, D'Annibale, C, Peeters, D, Wevers, R A, Zelena, D, Homberg, J R, Kozicz, T
Publicado em 2014

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

Por Benders, A A, Veerkamp, J H, Oosterhof, A, Jongen, P J, Bindels, R J, Smit, L M, Busch, H F, Wevers, R A
Publicado em 1994

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

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

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

Por 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
Publicado em 1998

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

Por 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
Publicado em 2007

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

Por 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
Publicado em 2010

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

Por Keulemans, J L, Reuser, A J, Kroos, M A, Willemsen, R, Hermans, M M, van den Ouweland, A M, de Jong, J G, Wevers, R A, Renier, W O, Schindler, D, Coll, M J, Chabas, A, Sakuraba, H, Suzuki, Y, van Diggelen, O P
Publicado em 1996

Genotype-Specific Differences in the Tumor Metabolite Profile of Pheochromocytoma and Paraganglioma Using Untargeted and Targeted Metabolomics

Por Rao, J. U., Engelke, U. F. H., Sweep, F. C. G. J., Pacak, K., Kusters, B., Goudswaard, A. G., Hermus, A. R. M. M., Mensenkamp, A. R., Eisenhofer, G., Qin, N., Richter, S., Kunst, H. P. M., Timmers, H. J. L. M., Wevers, R. A.
Publicado no J Clin Endocrinol Metab (2015)

Free Sialic Acid Storage Disease without sialuria

Por Mochel, F., Yang, B.Z., Barritault, J., Thompson, J.N., Engelke, U.F.H., McNeill, N.H, Benko, W.S., Kaneski, C.R., Adams, D.R., Tsokos, M., Abu-Asab, M., Huizing, M., Seguin, F., Wevers, R.A., Ding, J.H., Verheijen, F.W., Schiffmann, R.
Publicado em 2009

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

Por Mochel, F., Sedel, F., Vanderver, A., Engelke, U. F. H., Barritault, J., Yang, B. Z., Kulkarni, B., Adams, D. R., Clot, F., Ding, J. H., Kaneski, C. R., Verheijen, F. W., Smits, B. W., Seguin, F., Brice, A., Vanier, M. T., Huizing, M., Schiffmann, R., Durr, A., Wevers, R. A.
Publicado em 2009

Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma

Por Rao, J.U., Engelke, U.F.H., Rodenburg, R.J.T., Wevers, R.A., Pacak, K., Eisenhofer, G., Qin, N., Kusters, B., Goudswaard, A.G., Lenders, J.W.M, Hermus, A.R.M.M., Mensenkamp, A.R., Kunst, H.P.M., Sweep, F.C.G.J., Timmers, H.J.L.M.
Publicado em 2013

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Por Tegtmeyer, L.C., Rust, S., van Scherpenzeel, M., Ng, B.G., Losfeld, M.-E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y.S., Sharma, V., Adamowicz, M., Lammens, M., Reunert, J., Witten, A., Schrapers, E., Matthijs, G., Jaeken, J., Rymen, D., Stojkovic, T., Laforêt, P., Petit, F., Aumaître, O., Czarnowska, E., Piraud, M., Podskarbi, T., Stanley, C.A., Matalon, R., Burda, P., Seyyedi, S., Debus, V., Socha, P., Sykut-Cegielska, J., van Spronsen, F., de Meirleir, L., Vajro, P., DeClue, T., Ficicioglu, C., Wada, Y., Wevers, R.A., Vanderschaeghe, D., Callewaert, N., Fingerhut, R., van Schaftingen, E., Freeze, H.H., Morava, E., Lefeber, D.J., Marquardt, T.
Publicado no N Engl J Med (2014)