DSpace

DSpace at RU >

Browsing by Author Wijburg, F.A.

Jump to a point in the index:
Or type in a year:
Sort by: In order: Results/Page Authors/Record:
Showing results 1 to 10 of 10
Full TextIssue DateTitleAuthor(s)
2011High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trialHoedt, A.E. ten; Sonneville, L.M. de; Francois, B.; Horst, N.M. Ter; Janssen, M.C.H., et al
2011Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type IBroek, L. van den; Backx, A.P.C.M.; Coolen, H.; Wijburg, F.A.; Wevers, R.A., et al
2010Mucopolysaccharidosis 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
2010Tyrosine 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
2010Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.Valstar, M.J.; Neijs, S.; Bruggenwirth, H.T.; Olmer, R.; Ruijter, G.J., et al
2009Prediction 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
2008Diagnostic 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
2008Clinical 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
1997Smith-Lemli-Opitz syndrome: Deficient Delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detectionWanders, 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

 

  DSpace Software Copyright © 2002-2011  Duraspace - Feedback