|
|
DSpace at RU >
Search Results
Results 1-17 of 17.
Item hits:
| Full Text | Issue Date | Title | Author(s) | | 2010 | Clinical 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. |
| 2009 | Cerebellar Ataxia and Elevated Cerebrospinal Free Sialic Acid | Mochel, 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. |
| 2009 | Free 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. |
| 2009 | Cerebellar 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. |
| 2009 | Biochemical 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. |
| 2008 | Recurrent 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. |
| 2008 | Allele-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. |
| 2006 | Normal 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. |
| 2006 | Association 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. |
| 2004 | Is 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 hulpverlening | Veerman, J.W.; Wels, P.M.A.; Huizing, M.; Ruyter, J. de |
| 2003 | RADAR : casemanagement- en monitoringsysteem voor zorgteams | Krol, R.J. van der; Huizing, M. |
| 2003 | Checklist probleemkenmerken | Krol, R.J. van der; Huizing, M. |
| 2002 | Doelgroeponderzoek De Kubus en SBU : eindrapport | Huizing, M.; Kroes, G.; Veerman, J.W. |
| 1997 | Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex | Trijbels, J.M.F.; Ruitenbeek, W.; Huizing, M.; Wendel, U.A.H.; Smeitink, J.A.M.; Sengers, R.C.A. |
| 1997 | Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient | Huizing, 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. |
| 1996 | Importance 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. |
| 1996 | Deficiency of the voltage-dependent anion channel: A novel cause of mitochondriopathy | Huizing, 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 |
1
|