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10 Most Recent Publications
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RTTN mutations link primary cilia function to organization of the human cerebral cortex
(Article)
Kia, S.K. Verbeek, E. Brehm, A. Wit, M.C.Y. de Oegema, R. Dobyns, W.B. Verheijen, F.W. Mancini, G.M.S. Engelen, E. Schot, R. Poot, R. Coo, I.F.M. de Leguin, M. Poulton, C.J. Pourfarzad, F. Grosveld, F.G. |
2012-09-07
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Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS
(Article)
Bosch, J. van den Oemardien, L.F. Srebniak, M. Piraud, M. Huijmans, J. Verheijen, F.W. Ruijter, G.J.G. |
2011-10-01
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The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - Current status and perspectives
(Article)
Reuser, A.J.J. Verheijen, F.W. Wuyts, B. Zhang, K. Keutzer, J. Bali, D. Diggelen, O.P. van Germain, D.P. Hwu, W.L. Lukacs, Z. Mühl, A. Olivova, P. Piraud, M. |
2011-09-01
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Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors
(Article)
Poulton, C.J. Schot, R. Kia, S.K. Jones, M. Verheijen, F.W. Venselaar, H. Wit, M.C.Y. de Graaff, E. de Bertoli Avella, A.M. Mancini, G.M.S. |
2011-08-12
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Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots
(Article)
Shigeto, S. Katafuchi, T. Okumiya, T. Okada, Y. Nakamura, K. Endo, F. Okuyama, T. Takeuchi, H. Kroos, M.A. Verheijen, F.W. Reuser, A.J.J. |
2011-05-01
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Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15)
(Article)
Zhao, T. Graaff, E. de Oostra, B.A. Bonifati, V. Breedveld, G.J. Loda, A. Severijnen, L.A. Wouters, C.H. Verheijen, F.W. Dekker, M.C.J. Montagna, P. Willemsen, R. |
2011-02-25
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Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots
(Article)
Oemardien, L.F. Boer, A.M. Ruijter, G.J.G. Ploeg, A.T. van der Klerk, J.B. de Reuser, A.J.J. Verheijen, F.W. |
2011-01-01
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Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
(Article)
Valstar, M.J. Brüggenwirth, H.T. Olmer, R. Wevers, R.A. Verheijen, F.W. Poorthuis, B.J. Halley, D.J.J. Wijburg, F.A. |
2010-12-01
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Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I
(Article)
Groot, M.J. de Cuppen, M. Eling, M. Verheijen, F.W. Rings, E.H.H.M. Reijngoud, D.J. Vries, M.M.C. de Spronsen, F.J. van |
2010-09-20
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Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome
(Article)
Visser, W.E. Swagemakers, S.M.A. Özgür, Z. Schot, R. Verheijen, F.W. IJcken, W.F.J. van Spek, P.J. van der |
2010-08-12
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