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Full TextIssue DateTitleAuthor(s)
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.; Burlina, A.B.; Das, A.M.; Klerk, J.B. De; Dionisi-Vici, C.; Geb, S.; Gokcay, G.; Guffon, N.; Maier, E.M.; Morava, E.; Walter, J.H.; Schwahn, B.; Wijburg, F.A.; Lindner, M.; Grunewald, S.; Baumgartner, M.R.; Kolker, S.
2009Mitochondrial energy production correlates with the age-related BMI.Wortmann, S.B.; Zweers-van Essen, H.; Rodenburg, R.J.T.; Heuvel, L.P.W.J. van den; Vries, M.C. de; Rasmussen-Conrad, E.L.; Smeitink, J.A.M.; Morava, E.
2009Major depression in adolescent children consecutively diagnosed with mitochondrial disorder.Koene, S.; Kozicz, T.L.; Rodenburg, R.J.T.; Verhaak, C.M.; Vries, M.C. de; Wortmann, S.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Morava, E.
2009Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.Morava, E.; Wosik, H.; Sykut-Cegielska, J.; Adamowicz, M.; Guillard, M.; Wevers, R.A.; Lefeber, D.J.; Cruysberg, J.R.M.
2009Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.Guillard, M.; Dimopoulou, A.; Fischer, B.; Morava, E.; Lefeber, D.J.; Kornak, U.; Wevers, R.A.
2009Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.Engelke, U.F.H.; Tassini, M.; Hayek, J.; Vries, M. de; Bilos, A.; Vivi, A.; Valensin, G.; Buoni, S.; Zannolli, R.; Brussel, W.; Kremer, H.P.H.; Salomons, G.S.; Veendrick-Meekes, M.J.; Kluijtmans, L.A.J.; Morava, E.; Wevers, R.A.
2009Autosomal recessive cutis laxa syndrome revisited.Morava, E.; Guillard, M.; Lefeber, D.J.; Wevers, R.A.
2009Decreased bone density and treatment in patients with autosomal recessive cutis laxa.Noordam, C.; Funke, S.; Slobbe-Knoers, V.V.A.M.; Jira, P.E.; Wevers, R.A.; Urban, Z.; Morava, E.
2009Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry.Guillard, M.; Gloerich, J.; Wessels, H.J.; Morava, E.; Wevers, R.A.; Lefeber, D.J.
2009Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.Hucthagowder, V.; Morava, E.; Kornak, U.; Lefeber, D.J.; Fischer, B.; Dimopoulou, A.; Aldinger, A.; Choi, J.; Davis, E.C.; Abuelo, D.N.; Adamowicz, M.; Al-Aama, J.Y.; Basel-Vanagaite, L.; Fernandez, B.; Greally, M.T.; Gillessen-Kaesbach, G.; Kayserili, H.; Lemyre, E.; Tekin, M.; Turkmen, S.; Tuysuz, B.; Yuksel-Konuk, B.; Mundlos, S.; Maldergem, L. van; Wevers, R.A.; Urban, Z.

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