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2010Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.Voermans, N.C.; Guillard, M.; Doedee, R.; Lammens, M.M.Y.; Huizing, M.; Padberg, G.W.A.M.; Wevers, R.A.; Engelen, B.G.M. van; Lefeber, D.J.
2009Cerebellar Ataxia and Elevated Cerebrospinal Free Sialic AcidMochel, F.; Sedel, F.; Vanderver, A.; Engelke, U.F.H.; Yang, B.Z.; Smits, B.W.; Verheijen, F.W.; Seguin, F.; Brice, A.; Vanier, M.T.; Huizing, M.; Schiffmann, R.; Durr, A.; Wevers, R.A.
2009Free sialic acid storage disease without sialuria.Mochel, F.; Yang, B.; 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.; Verheijen, F.W.; Schiffmann, R.
2009Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).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.
2009Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.Wortmann, S.B.; Rodenburg, R.J.T.; Jonckheere, A.I.; Vries, M.C. de; Huizing, M.; Heldt, K.; Heuvel, L.P.W.J. van den; Wendel, U.A.H.; Kluijtmans, L.A.J.; Engelke, U.F.H.; Wevers, R.A.; Smeitink, J.A.M.; Morava, E.
2008Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.Contopoulos-Ioannidis, D.; Evangeliou, A.; Laak, H. ter; Vries, B. de; Pfundt, R.P.; Scheffer, H.; Smeitink, J.A.M.; Tzoufi, M.; Makis, A.; Marinos, E.; Hess, R.; Adams, D.; Huizing, M.; Morava, E.
2008Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.Klootwijk, R.D.; Savelkoul, P.J.M.; Ciccone, C.; Manoli, I.; Caplen, N.J.; Krasnewich, D.M.; Gahl, W.A.; Huizing, M.
2006Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy.Savelkoul, P.J.M.; Manoli, I.; Sparks, S.E.; Ciccone, C.; Gahl, W.A.; Krasnewich, D.M.; Huizing, M.
2006Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.Wortmann, S.; Rodenburg, R.J.T.; Huizing, M.; Loupatty, F.J.; Koning, T. de; Kluijtmans, L.A.J.; Engelke, U.F.H.; Wevers, R.A.; Smeitink, J.A.M.; Morava, E.
2004Is in de jeugdzorg de eerste klap ook een daalder waard? Een onderzoek naar het belang van het vestigen van een goede werkrelatie in het eerste contact bij intensieve ambulante hulpverleningVeerman, J.W.; Wels, P.M.A.; Huizing, M.; Ruyter, J. de
2003RADAR : casemanagement- en monitoringsysteem voor zorgteamsKrol, R.J. van der; Huizing, M.
2003Checklist probleemkenmerkenKrol, R.J. van der; Huizing, M.
2002Doelgroeponderzoek De Kubus en SBU : eindrapportHuizing, M.; Kroes, G.; Veerman, J.W.
1997Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complexTrijbels, J.M.F.; Ruitenbeek, W.; Huizing, M.; Wendel, U.A.H.; Smeitink, J.A.M.; Sengers, R.C.A.
1997Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patientHuizing, M.; Iacobazzi, V.; Ijlst, L.; Savelkoul, P.J.M.; Ruitenbeek, W.; Heuvel, L.P.W.J. van den; Indiveri, C.; Smeitink, J.A.M.; Trijbels, J.M.F.; Wanders, R.J.A.; Palmieri, F.
1996Importance of mitochondrial transmembrane processes in human mitochondriopathies.Huizing, M.; Pinto, V. de; Ruitenbeek, W.; Trijbels, J.M.F.; Heuvel, L.P.W.J. van den; Wendel, U.A.H.
1996Deficiency of the voltage-dependent anion channel: A novel cause of mitochondriopathyHuizing, M.; Ruitenbeek, W.; Thinnes, F.P.; DePinto, V.; Wendel, U.; Trijbels, F.J.M.; Smit, L.M.E.; Laak, H.J. ter; Heuvel, L.P. van den

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