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| Full Text | Issue Date | Title | Author(s) |  | 2012 | Sex-specific differences in the dynamics of cocaine- and amphetamine-regulated transcript and nesfatin-1 expressions in the midbrain of depressed suicide victims vs. controls. | Bloem, B.R.; Xu, L.; Morava, E.; Faludi, G.; Palkovits, M.; Roubos, E.W.; Kozicz, T. |
| | 2011 | 3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype | Wortmann, S.B.; Morava, E. |
| | 2011 | CDG - an update | Morava, E.; Lefeber, D.J. |
| | 2011 | How to find and diagnose a CDG due to defective N-glycosylation | Lefeber, D.J.; Morava, E.; Jaeken, J. |
| | 2011 | Sex-specific differences in the dynamics of cocaine- and amphetamine-regulated transcript and nesfatin-1 expressions in the midbrain of depressed suicide victims vs. Controls | Bloem, B.; Xu, L.; Morava, E.; Faludi, G.; Palkovits, M.; Roubos, E.W.; Kozicz, M. |
| | 2011 | Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? | Brunetti-Pierri, N.; Piccolo, P.; Morava, E.; Wevers, R.A.; McGuirk, M.; Johnson, Y.R.; Urban, Z.; Dishop, M.K.; Potocki, L. |
| | 2011 | Normal glycosylation screening does not rule out SRD5A3-CDG | Mohamed, M.; Cantagrel, V.; Al-Gazali, L.; Wevers, R.A.; Lefeber, D.J.; Morava, E. |
| | 2011 | Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations | Kouwenberg, D.; Gardeitchik, T.; Wevers, R.A.; Haberle, J.; Morava, E. |
 | 2011 | B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement | Guillard, M.; Morava, E.; Ruijter, J. de; Roscioli, T.; Penzien, J.; Heuvel, L.P.W.J. van den; Willemsen, M.A.A.P.; Brouwer, A.P.M. de; Bodamer, O.A.; Wevers, R.A.; Lefeber, D.J. |
| | 2011 | Metabolic cutis laxa syndromes | Mohamed, M.; Kouwenberg, D.; Gardeitchik, T.; Kornak, U.; Wevers, R.A.; Morava, E. |
| | 2011 | Congenital disorders of glycosylation: sweet news | Theodore, M.; Morava, E. |
| | 2011 | Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man. | Holleboom, A.G.; Karlsson, H.; Lin, R.S.; Beres, T.M.; Sierts, J.A.; Herman, D.S.; Stroes, E.S.; Aerts, J.M.F.G.; Kastelein, J.J.; Motazacker, M.M.; Dallinga-Thie, G.M.; Levels, J.H.; Zwinderman, A.H.; Seidman, J.G.; Seidman, C.E.; Ljunggren, S.; Lefeber, D.J.; Morava, E.; Wevers, R.A.; Fritz, T.A.; Tabak, L.A.; Lindahl, M.; Hovingh, G.K.; Kuivenhoven, J.A. |
| | 2011 | Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency | Achouitar, S.; Goldstein, J.L.; Mohamed, M.; Austin, S.; Boyette, K.; Blanpain, F.M.; Rehder, C.W.; Kishnani, P.S.; Wortmann, S.B.; Heijer, M. den; Lefeber, D.J.; Wevers, R.A.; Bali, D.S.; Morava, E. |
| | 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.; Morava, E.; Neeleman, C. |
| | 2011 | Early detection of myocardial dysfunction in children with mitochondrial disease: An ultrasound and two-dimensional strain echocardiography study | Marcus, K.A.; Barends, M.; Morava, E.; Feuth, T.; Korte, C.L. de; Kapusta, L. |
 | 2011 | Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation. | Lefeber, D.J.; Brouwer, A.P.M. de; Morava, E.; Riemersma, M.; Schuurs-Hoeijmakers, J.H.M.; Absmanner, B.; Verrijp, K.; Akker, W.M.R. van den; Huijben, K.; Steenbergen, G.C.; Reeuwijk, J. van; Jozwiak, A.; Zucker, N.; Lorber, A.; Lammens, M.M.Y.; Knopf, C.; Bokhoven, H. van; Grunewald, S.; Lehle, L.; Kapusta, L.; Mandel, H.; Wevers, R.A. |
| | 2011 | Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression | Achouitar, S.; Mohamed, M.; Gardeitchik, T.; Wortmann, S.B.; Sykut-Cegielska, J.; Ensenauer, R.; Baulny, H.O. de; Ounap, K.; Martinelli, D.; de Vries, M.; McFarland, R.; Kouwenberg, D.; Theodore, M.; Wijburg, F.; Grunewald, S.; Jaeken, J.; Wevers, R.A.; Nijtmans, L.G.J.; Elson, J.; Morava, E. |
| | 2011 | Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern | Mohamed, M.; Guillard, M.; Wortmann, S.B.; Cirak, S.; Marklova, E.; Michelakakis, H.; Korsch, E.; Adamowicz, M.; Koletzko, B.; Spronsen, F.J. van; Niezen-Koning, K.E.; Matthijs, G.; Gardeitchik, T.; Kouwenberg, D.; Lim, B.C.; Zeevaert, R.; Wevers, R.A.; Lefeber, D.J.; Morava, E. |
| | 2011 | Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I | Guillard, M.; Wada, Y.; Hansikova, H.; Yuasa, I.; Vesela, K.; Ondruskova, N.; Kadoya, M.; Janssen, A.; Heuvel, L.P.W.J. van den; Morava, E.; Zeman, J.; Wevers, R.A.; Lefeber, D.J. |
| | 2011 | Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II | Guillard, M.; Morava, E.; Delft, F.L. van; Hague, R.; Korner, C.; Adamowicz, M.; Wevers, R.A.; Lefeber, D.J. |
| | 2011 | Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family | Morava, E.; Kuhnisch, J.; Drijvers, J.M.; Robben, J.H.; Cremers, C.W.R.J.; Setten, P. van; Branten, A.J.W.; Stumpp, S.; Jong, A. de; Voesenek, K.E.J.; Vermeer, S.; Heister, A.; Claahsen-van der Grinten, H.L.; O'Neill, C.W.; Willemsen, M.H.; Lefeber, D.J.; Deen, P.M.T.; Kornak, U.; Kremer, J.M.J.; Wevers, R.A. |
| | 2011 | Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway | Kleefstra, T.; Wortmann, S.B.; Rodenburg, R.J.T.; Bongers, M.H.F.; Hadzsiev, K.; Noordam, C.; Heuvel, L.P.W.J. van den; Nillesen, W.M.; Hollody, K.; Gillessen-Kaesbach, G.; Lammens, M.M.Y.; Smeitink, J.A.M.; Burgt, C.J.A.M. van der; Morava, E. |
| | 2010 | 'PKU: niet altijd 'PKU'' | Croonen, E.A.; Jonckheere, A.I.; Morava, E. |
| | 2010 | De Barsy sydrome and ATP6V0A2-CDG Reply. | Morava, E.; Guillard, M.; Lefeber, Dirk; Wevers, R.A. |
| | 2010 | Depressive behaviour in children diagnosed with a mitochondrial disorder | Morava, E.; Gardeitchik, T.; Kozicz, L.T.; Boer, L. de; Koene, S.; Vries, M.C. de; McFarland, R.; Roobol, T.; Rodenburg, R.J.T.; Verhaak, C.M. |
| | 2010 | MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. | Albrecht, B.; Brouwer, A.P.M. de; Lefeber, D.J.; Cremer, K.; Hausser, I.; Rossen, N.; Wortmann, S.B.; Wevers, R.A.; Kornak, U.; Morava, E. |
| | 2010 | Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations. | Drijvers, J.M.; Lefeber, D.J.; Munnik, S.A. de; Pfundt, R.; Leeuw, N. de; Marcelis, C.L.M.; Thiel, C.; Koerner, C.; Wevers, R.A.; Morava, E. |
| | 2010 | Depressive behaviour in children diagnosed with a mitochondrial disorder. | Morava, E.; Gardeitchik, T.; Kozicz, T.; Boer, L. de; Koene, S.; Vries, M.C. de; McFarland, R.; Roobol, T.; Rodenburg, R.J.T.; Verhaak, C.M. |
| | 2010 | Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. | Engelke, U.F.H.; Zijlstra, F.S.M.; Mochel, F.; Valayannopoulos, V.; Rabier, D.; Kluijtmans, L.A.J.; Perl, A.; Verhoeven-Duif, N.M.; Lonlay, P. de; Wamelink, M.M.; Jakobs, C.; Morava, E.; Wevers, R.A. |
| | 2010 | IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. | Kranendijk, M.; Struys, E.A.; Schaftingen, E. van; Gibson, K.M.; Kanhai, W.A.; Knaap, M.S. van der; Amiel, J.; Buist, N.R.; Das, A.M.; Klerk, J.B. De; Feigenbaum, A.S.; Grange, D.K.; Hofstede, F.C.; Holme, E.; Kirk, E.P.; Korman, S.H.; Morava, E.; Morris, A.; Smeitink, J.A.M.; Sukhai, R.N.; Vallance, H.; Jakobs, C.; Salomons, G.S. |
| | 2010 | [(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case. | Tassini, M.; Zannolli, R.; Buoni, S.; Engelke, U.F.H.; Vivi, A.; Valensin, G.; Salomons, G.S.; Nicola, A. De; Strambi, M.; Monti, L.; Morava, E.; Wevers, R.A.; Hayek, J. |
| | 2010 | SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. | Cantagrel, V.; Lefeber, D.J.; Ng, B.G.; Guan, Z.; Silhavy, J.L.; Bielas, S.L.; Lehle, L.; Hombauer, H.; Adamowicz, M.; Swiezewska, E.; Brouwer, A.P.M. de; Blumel, P.; Sykut-Cegielska, J.; Houliston, S.; Swistun, D.; Ali, B.R.; Dobyns, W.B.; Babovic-Vuksanovic, D.; Bokhoven, J.H.L.M. van; Wevers, R.A.; Raetz, C.R.; Freeze, H.H.; Morava, E.; Al-Gazali, L.; Gleeson, J.G. |
| | 2010 | Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. | Smits, P.; Mattijssen, S.; Morava, E.; Brand, M. van den; Brandt, F. van den; Wijburg, F.; Pruijn, G.J.M.; Smeitink, J.A.M.; Nijtmans, L.; Rodenburg, R.; Heuvel, L.P.W.J. van den |
| | 2010 | Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. | Smits, P.; Mattijssen, S.; Morava, E.; Brand, M. van den; Brandt, F. van den; Wijburg, F.; Pruijn, G.J.M.; Smeitink, J.A.M.; Nijtmans, L.G.J.; Rodenburg, R.J.T.; Heuvel, L.P.W.J. van den |
| | 2010 | 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. | Wortmann, S.B.; Kremer, H.P.H.; Graham, A.; Willemsen, M.H.; Loupatty, F.J.; Hogg, S.L.; Engelke, U.F.H.; Kluijtmans, L.A.J.; Wanders, R.J.; Illsinger, S.; Wilcken, B.; Cruysberg, J.R.M.; Das, A.M.; Morava, E.; Wevers, R.A. |
| | 2010 | A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. | Morava, E.; Wevers, R.A.; Cantagrel, V.; Hoefsloot, L.H.; Al-Gazali, L.; Schoots, J.; Rooij, A. van; Huijben, K.; Ravenswaaij-Arts, C.M.A. van; Jongmans, M.C.J.; Sykut-Cegielska, J.; Hoffmann, G.F.; Bluemel, P.; Adamowicz, M.; Reeuwijk, J. van; Ng, B.G.; Bergman, J.E.; Bokhoven, J.H.L.M. van; Korner, C.; Babovic-Vuksanovic, D.; Willemsen, M.A.A.P.; Gleeson, J.G.; Lehle, L.; Brouwer, A.P.M. de; Lefeber, D.J. |
| | 2009 | Major depression in adolescent children consecutively diagnosed with mitochondrial disorder | Koene, S.; Kozicz, L.T.; Rodenburg, R.J.; Verhaak, C.M.; Vries de, M.C.; Wortmann, S.; Heuvel, L. van de; Smeitink, J.A.M.; Morava, E. |
| | 2009 | Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. | Morava, E.; Wevers, R.A.; Willemsen, M.A.A.P.; Lefeber, D.J. |
| | 2009 | Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. | Morava, E.; Steuerwald, U.; Carrozzo, R.; Kluijtmans, L.A.J.; Joensen, F.; Santer, R.; Dionisi-Vici, C.; Wevers, R.A. |
| | 2009 | Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications. | Bonthuis, D.; Morava, E.; Booij, L.H.D.J.; Driessen, J.J. |
| | 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.; 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. |
| | 2009 | Mitochondrial 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. |
| | 2009 | Major 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. |
| | 2009 | Ophthalmological 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. |
| | 2009 | Vacuolar 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. |
| | 2009 | Guanidinoacetate 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. |
| | 2009 | Autosomal recessive cutis laxa syndrome revisited. | Morava, E.; Guillard, M.; Lefeber, D.J.; Wevers, R.A. |
| | 2009 | Decreased 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. |
| | 2009 | Automated 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. |
| | 2009 | Loss-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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