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Browsing by Author Wijburg, F.A.
Showing results 1 to 10 of 10
| Full Text | Issue Date | Title | Author(s) | | 2011 | High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial | Hoedt, A.E. ten; Sonneville, L.M. de; Francois, B.; Horst, N.M. Ter; Janssen, M.C.H., et al |
| 2011 | Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type I | Broek, L. van den; Backx, A.P.C.M.; Coolen, H.; Wijburg, F.A.; Wevers, R.A., et al |
| 2010 | Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. | Valstar, M.J.; Bruggenwirth, H.T.; Olmer, R.; Wevers, R.A.; Verheijen, F.W., et al |
| 2010 | Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. | Willemsen, M.A.A.P.; Verbeek, M.M.; Kamsteeg, E.J.; Rijk-van Andel, J.F. de; Aeby, A., et al |
| 2010 | Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. | Valstar, M.J.; Neijs, S.; Bruggenwirth, H.T.; Olmer, R.; Ruijter, G.J., et al |
| 2009 | Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. | Horster, F.; Garbade, S.F.; Zwickler, T.; Aydin, H.I.; Bodamer, O.A., et al |
| 2008 | Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. | Zwickler, T.; Lindner, M.; Aydin, H.I.; Baumgartner, M.R.; Bodamer, O.A., et al |
| 2008 | Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. | Ruijter, G.J.; Valstar, M.J.; Kamp, JM van de; Helm, RM van der; Durand, S., et al |
| 2008 | [Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated] | Maldegem, BT van; Duran, M.; Wanders, R.J.A.; Niezen-Koning, K.E.; Hogeveen, M., et al |
| 1997 | Smith-Lemli-Opitz syndrome: Deficient Delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection | Wanders, R.J.A.; Romeijn, G.J.; Wijburg, F.A.; Hennekam, R.C.M.; Jong, J.G.N. de, et al |
Showing results 1 to 10 of 10
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