Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis
Pol, Arjan, Renkema, G. Herma, Tangerman, Albert, Winkel, Edwin G., Engelke, Udo F., de Brouwer, Arjan P. M., Lloyd, Kent C., Araiza, Renee S., van den Heuvel, Lambert, Omran, Heymut, Olbrich, Heike, Oude Elberink, Marijn, Gilissen, Christian, Rodenburg, Richard J., Sass, Jörn Oliver, Schwab, K. Otfried, Schäfer, Hendrik, Venselaar, Hanka, Sequeira, J. Silvia, Op den Camp, Huub J. M., Wevers, Ron A.
Published in Nature genetics (01.01.2018)
Published in Nature genetics (01.01.2018)
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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
Wortmann, Saskia B, Vaz, Frédéric M, Gardeitchik, Thatjana, Vissers, Lisenka E L M, Renkema, G Herma, Schuurs-Hoeijmakers, Janneke H M, Kulik, Wim, Lammens, Martin, Christin, Christin, Kluijtmans, Leo A J, Rodenburg, Richard J, Nijtmans, Leo G J, Grünewald, Anne, Klein, Christine, Gerhold, Joachim M, Kozicz, Tamas, van Hasselt, Peter M, Harakalova, Magdalena, Kloosterman, Wigard, Barić, Ivo, Pronicka, Ewa, Ucar, Sema Kalkan, Naess, Karin, Singhal, Kapil K, Krumina, Zita, Gilissen, Christian, van Bokhoven, Hans, Veltman, Joris A, Smeitink, Jan A M, Lefeber, Dirk J, Spelbrink, Johannes N, Wevers, Ron A, Morava, Eva, de Brouwer, Arjan P M
Published in Nature genetics (01.07.2012)
Published in Nature genetics (01.07.2012)
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Journal Article
MEGDEL Syndrome: Expanding the Phenotype and New Mutations
Sequeira, Sílvia, Rodrigues, Márcia, Jacinto, Sandra, Wevers, Ron A, Wortmann, Saskia B
Published in Neuropediatrics (01.10.2017)
Published in Neuropediatrics (01.10.2017)
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Journal Article
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome
Wortmann, Saskia B, van Hasselt, Peter M, Barić, Ivo, Burlina, Alberto, Darin, Niklas, Hörster, Friederike, Coker, Mahmut, Ucar, Sema Kalkan, Krumina, Zita, Naess, Karin, Ngu, Lock H, Pronicka, Ewa, Riordan, Gilian, Santer, Rene, Wassmer, Evangeline, Zschocke, Johannes, Schiff, Manuel, de Meirleir, Linda, Alowain, Mohammed A, Smeitink, Jan A M, Morava, Eva, Kozicz, Tamas, Wevers, Ron A, Wolf, Nicole I, Willemsen, Michel A
Published in Neuropediatrics (01.04.2015)
Published in Neuropediatrics (01.04.2015)
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Journal Article
The frequency of lysosomal storage diseases in The Netherlands
Poorthuis, B.J.H.M., Wevers, R.A., Kleijer, W.J., Groener, J.E.M., de Jong, J.G.N., van Weely, S., Niezen-Koning, K.E., van Diggelen, O.P.
Published in Human genetics (01.08.1999)
Published in Human genetics (01.08.1999)
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Journal Article
Mevalonate kinase deficiency: Evidence for a phenotypic continuum
Simon, A, Kremer, H P H, Wevers, R A, Scheffer, H, De Jong, J G, Van Der Meer, J W M, Drenth, J P H
Published in Neurology (23.03.2004)
Published in Neurology (23.03.2004)
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Journal Article
Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism
Sass, Jörn Oliver, Mohr, Verena, Olbrich, Heike, Engelke, Udo, Horvath, Judit, Fliegauf, Manfred, Loges, Niki Tomas, Schweitzer-Krantz, Susanne, Moebus, Ralf, Weiler, Polly, Kispert, Andreas, Superti-Furga, Andrea, Wevers, Ron A., Omran, Heymut
Published in American journal of human genetics (01.03.2006)
Published in American journal of human genetics (01.03.2006)
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Journal Article
Systems medicine, personalized health and therapy
Siest, Gérard, Auffray, Charles, Taniguchi, Naoyuki, Ingelman-Sundberg, Magnus, Murray, Helena, Visvikis-Siest, Sophie, Ansari, Marc, Marc, Janja, Jacobs, Peter, Meyer, Urs, Van Schaik, Ron HN, Müller, Mathias M, Wevers, Ron A, Simmaco, Maurizio, Kussmann, Martin, Manolopoulos, Vangelis G, Alizadeh, Behrooz Z, Beastall, Graham, Németh, György
Published in Pharmacogenomics (01.09.2015)
Published in Pharmacogenomics (01.09.2015)
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Conference Proceeding
The first inborn error of manganese metabolism caused by mutations in SLC30A10 , a newly identified manganese transporter
Tuschl, K, Dr, Clayton, PT, Gospe, SM, Shamshad, G, Ibrahim, S, Singhi, P, Ribeiro, RT, Zaki, MS, del Rosario, M Luz, Dyack, S, Price, V, Wevers, RA, Mills, PB
Published in The Lancet (British edition) (27.02.2013)
Published in The Lancet (British edition) (27.02.2013)
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Journal Article
Maternal myo-inositol, glucose, and zinc status is associated with the risk of offspring with spina bifida
Groenen, Pascal M, Peer, Petronella G, Wevers, Ron A, Swinkels, Dorine W, Franke, Barbara, Mariman, Edwin C, Steegers-Theunissen, Régine P
Published in American journal of obstetrics and gynecology (01.12.2003)
Published in American journal of obstetrics and gynecology (01.12.2003)
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Journal Article
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency
Schiller, A, Wevers, R A, Steenbergen, G C H, Blau, N, Jung, H H
Published in Neurology (26.10.2004)
Published in Neurology (26.10.2004)
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Journal Article
Apolipoprotein C-III Isofocusing in the Diagnosis of Genetic Defects in O-Glycan Biosynthesis
Wopereis, Suzan, Grunewald, Stephanie, Morava, Eva, Penzien, Johannes M, Briones, Paz, Garcia-Silva, M. Teresa, Demacker, Pierre N.M, Huijben, Karin M.L.C, Wevers, Ron A
Published in Clinical chemistry (Baltimore, Md.) (01.11.2003)
Published in Clinical chemistry (Baltimore, Md.) (01.11.2003)
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Journal Article
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
Verrips, Aad, Hoefsloot, Lies H., Steenbergen, Gerry C. H., Theelen, Joop P., Wevers, Ron A., Gabreëls, Fons J. M., van Engelen, Baziel G. M., van den Heuvel, Lambert P. W. J.
Published in Brain (London, England : 1878) (01.05.2000)
Published in Brain (London, England : 1878) (01.05.2000)
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Journal Article
Protein Complexes in the Archaeon Methanothermobacter thermautotrophicus Analyzed by Blue Native/SDS-PAGE and Mass Spectrometry
Farhoud, Murtada H, Wessels, Hans J C T, Steenbakkers, Peter J M, Mattijssen, Sandy, Wevers, Ron A, van Engelen, Baziel G, Jetten, Mike S M, Smeitink, Jan A, van den Heuvel, Lambert P, Keltjens, Jan T
Published in Molecular & cellular proteomics (01.11.2005)
Published in Molecular & cellular proteomics (01.11.2005)
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Journal Article
Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene
Waterham, Hans R., Wijburg, Frits A., Hennekam, Raoul C.M., Vreken, Peter, Poll-The, Bwee Tien, Dorland, Lambertus, Duran, Marinus, Jira, Petr E., Smeitink, Jan A.M., Wevers, Ron A., Wanders, Ronald J.A.
Published in American journal of human genetics (01.08.1998)
Published in American journal of human genetics (01.08.1998)
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Journal Article
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
Hoffmann, Georg F., Assmann, Birgit, Bräutigam, Christa, Dionisi-Vici, Carlo, Häussler, Martin, De Klerk, Johannes B. C., Naumann, Markus, Steenbergen-Spanjers, Gerry C. H., Strassburg, Hans-Michael, Wevers, Ron A.
Published in Annals of neurology (2003)
Published in Annals of neurology (2003)
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Journal Article
Conference Proceeding
β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities
van Kuilenburg, André B.P., Meinsma, Rutger, Beke, Eva, Assmann, Birgit, Ribes, Antonia, Lorente, Isabel, Busch, Rebekka, Mayatepek, Ertan, Abeling, Nico G.G.M., van Cruchten, Arno, Stroomer, Alida E.M., van Lenthe, Henk, Zoetekouw, Lida, Kulik, Willem, Hoffmann, Georg F., Voit, Thomas, Wevers, Ron A., Rutsch, Frank, van Gennip, Albert H.
Published in Human molecular genetics (15.11.2004)
Published in Human molecular genetics (15.11.2004)
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