
Browse
	Faculties & Departments
	Issue Date
	Author
	Title
	Communities & Collections

Sign on to:
	My DSpace authorized users

Search Results

Search:

for

Results 1-50 of 211.

Sort items by In order | Results/Page Authors/record

Item hits:

Issue Date	Title	Author(s)
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	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	Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency	Banka, S.; Blom, H.J.; Walter, J.; Aziz, M.; Urquhart, J.; Clouthier, C.M.; Rice, G.I.; Brouwer, A.P.M. de; Hilton, E.; Vassallo, G.; Will, A.; Smith, D.E.; Smulders, Y.M.; Wevers, R.A.; Steinfeld, R.; Heales, S.; Crow, Y.J.; Pelletier, J.N.; Jones, S.; Newman, W.G.
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	Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability	Mencarelli, M.A.; Tassini, M.; Pollazzon, M.; Vivi, A.; Calderisi, M.; Falco, M.; Fichera, M.; Monti, L.; Buoni, S.; Mari, F.; Engelke, U.F.H.; Wevers, R.A.; Hayek, J.; Renieri, A.
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.
2010	Dietetic approach to trimethylaminuria.	Alvarez, T.M.; Guardiola, P.; Elviro, R.; Wevers, R.A.
2010	Tratamiento dietético de la trimetilaminuria	Montoya Alvarez, T.; Diaz Guardiola, P.; Elviro, R.; Wevers, R.A.
2010	What have we here? A man or a fish?	Nanayakkara, P.W.; Meijboom, M.; Kramer, M.H.W.; Wevers, R.A.; Jakobs, C.
2010	De Barsy sydrome and ATP6V0A2-CDG Reply.	Morava, E.; Guillard, M.; Lefeber, Dirk; Wevers, R.A.
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	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.
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	Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.	Wallon, D.; Guyant-Marechal, L.; Laquerriere, A.; Wevers, R.A.; Martinaud, O.; Kluijtmans, L.A.J.; Yntema, H.G.; Saugier-Veber, P.; Hannequin, D.
2010	In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.	Henneke, M.; Dreha-Kulaczewski, S.; Brockmann, K.; Graaf, M. van der; Willemsen, M.H.; Engelke, U.F.H.; Dechent, P.; Heerschap, A.; Helms, G.; Wevers, R.A.; Gartner, J.
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	Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.	Valstar, M.J.; Neijs, S.; Bruggenwirth, H.T.; Olmer, R.; Ruijter, G.J.; Wevers, R.A.; Diggelen, O.P. van; Poorthuis, B.J.H.M.; Halley, D.J.; Wijburg, F.A.
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	Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.	Mochel, F.; Engelke, U.F.H.; Barritault, J.; Yang, B.; McNeill, N.H.; Thompson, J.N.; Vanderver, A.; Wolf, N.I.; Willemsen, M.A.A.P.; Verheijen, F.W.; Seguin, F.; Wevers, R.A.; Schiffmann, R.
2010	New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.	Delnooz, C.C.S.; Lefeber, D.J.; Langemeijer, S.M.C.; Hoffjan, S.; Dekomien, G.; Zwarts, M.J.; Engelen, B.G.M. van; Wevers, R.A.; Schelhaas, H.J.; Warrenburg, B.P.C. van de
2010	Ovarian cyst fluid of serous ovarian tumors contains large quantities of the brain amino acid N-acetylaspartate.	Kolwijck, E.; Wevers, R.A.; Engelke, U.F.H.; Woudenberg, J.; Bulten, J.; Blom, H.J.; Massuger, L.F.A.G.
2010	Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction.	Zannolli, R.; Buoni, S.; Tassini, M.; Nicola, A. De; Betti, G.; Felice, C. De; Orsi, A.; Varetti, M.C.; Ferrara, F.; Messina, M.; Giannini, C.; Mohn, A.; Chiarelli, F.; Liberati, M.; Strambi, M.; Funghini, S.; Vivi, A.; Wevers, R.A.; Hayek, J.
2010	Expression of sialidase and dystroglycan in human glomerular diseases.	Vogtlander, N.P.J.; Vlag, J. van der; Bakker, Maaike; Dijkman, H.B.; Wevers, R.A.; Campbell, K.P.; Wetzels, J.F.M.; Berden, J.H.M.
2010	Prevalence of cysts in epithelial ovarian cancer.	Kolwijck, E.; Lybol, C.; Bulten, J.; Vollebergh, J.H.A.; Wevers, R.A.; Massuger, L.F.A.G.
2010	Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.	Valstar, M.J.; Bertoli-Avella, A.M.; Wessels, M.W.; Ruijter, G.J.; Graaf, B. de; Olmer, R.; Elfferich, P.; Neijs, S.; Kariminejad, R.; Suheyl Ezgu, F.; Tokatli, A.; Czartoryska, B.; Bosschaart, A.N.; Bos-Terpstra, F. van den; Puissant, H.; Burger, F.; Omran, H.; Eckert, D.; Filocamo, M.; Simeonov, E.; Willems, P.J.; Wevers, R.A.; Niermeijer, M.F.; Halley, D.J.; Poorthuis, B.J.H.M.; Diggelen, O.P. van
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	Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.	Valstar, M.J.; Bruggenwirth, H.T.; Olmer, R.; Wevers, R.A.; Verheijen, F.W.; Poorthuis, B.J.H.M.; Halley, D.J.; Wijburg, F.A.
2010	Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.	Wassenberg, T.; Willemsen, M.H.; Geurtz, P.B.; Lammens, M.M.Y.; Verrijp, K.; Wilmer, M.J.G.; Lee, W.T.; Wevers, R.A.; Verbeek, M.M.
2010	Tyrosine 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.; Blau, N.; Burlina, A.; Donati, M.A.; Geurtz, B.; Grattan-Smith, P.J.; Haeussler, M.; Hoffmann, G.F.; Jung, H.; Klerk, J.B. De; Knaap, M.S. van der; Kok, F.; Leuzzi, V.; Lonlay, P. de; Megarbane, A.; Monaghan, H.; Renier, W.O.; Rondot, P.; Ryan, M.M.; Seeger, J.P.H.; Smeitink, J.A.M.; Steenbergen-Spanjers, G.C.H.; Wassmer, E.; Weschke, B.; Wijburg, F.A.; Wilcken, B.; Zafeiriou, D.I.; 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.
2010	Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.	Leen, W.G.; Klepper, J.; Verbeek, M.M.; Leferink, M.; Hofste, T.; Engelen, B.G.M. van; Wevers, R.A.; Arthur, T.; Bahi-Buisson, N.; Ballhausen, D.; Bekhof, J.; Bogaert, P. van; Carrilho, I.; Chabrol, B.; Champion, M.P.; Coldwell, J.; Clayton, P.; Donner, E.; Evangeliou, A.; Ebinger, F.; Farrell, K.; Forsyth, R.J.; Goede, C.G. de; Gross, S.; Grunewald, S.; Holthausen, H.; Jayawant, S.; Lachlan, K.; Laugel, V.; Leppig, K.; Lim, M.J.; Mancini, G.; Marina, A.D.; Martorell, L.; McMenamin, J.; Meuwissen, M.E.; Mundy, H.; Nilsson, N.O.; Panzer, A.; Poll-The, B.T.; Rauscher, C.; Rouselle, C.M.; Sandvig, I.; Scheffner, T.; Sheridan, E.; Simpson, N.; Sykora, P.; Tomlinson, R.; Trounce, J.; Webb, D.; Weschke, B.; Scheffer, H.; Willemsen, M.A.A.P.
2009	High-resolution H-1 NMR spectroscopic investigation of a chick embryo model of neural tube development.	Coen, M.; Wevers, R.A.; Lindon, J.C.; Blom, H.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	Het juiste medicijn voor cerebrotendineuze xanthomatose	Verrips, A.; Wevers, R.A.; Spronsen, F.J. van; Sikkens, H.
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	Sedoheptulokinase deficiency due to a 57-KB deletion in cystinosis patients causes accumulation of sedoheptulose: elucidation of the function of the carkl gene	Wamelink, M.M.; Struys, E.A.; Jansen, E.E.W.; Zijlstra, F.S.M.; Engelke, U.F.H.; Blom, H.J.; Wevers, R.A.; Jakobs, C.; Levtchenko, E.N.
2009	Trimetilaminuria: el síndrome de olor a pescado	Montoya Alvarez, T.; Guardiola, P.; Roldan, J.O.; Elviro, R.; Wevers, R.A.; Guijarro, G.
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	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.

1 2 3 4 5 next