Search Results - Wevers, Ron A.

Clinical, neuroimaging, and metabolic footprint of the neurodevelopmental disorder caused by monoallelic HK1 variants by Wortmann, Saskia B. (Author) , Feichtinger, Rene G. (Author) , Abela, Lucia (Author) , van Gemert, Loes A. (Author) , Aubart, Mélodie (Author) , Dufeu-Berat, Claire-Marine (Author) , Boddaert, Nathalie (Author) , de Coo, Rene (Author) , Stühn, Lara (Author) , Hebbink, Jasmijn (Author) , Heinritz, Wolfram (Author) , Hildebrandt, Julia (Author) , Himmelreich, Nastassja (Author) , Korenke, Christoph (Author) , Lehman, Anna (Author) , Leyland, Thomas (Author) , Makowski, Christine (Author) , Martinez Marin, Rafael Jenaro (Author) , Marzin, Pauline (Author) , Mühlhausen, Chris (Author) , Rio, Marlène (Author) , Rotig, Agnes (Author) , Roux, Charles-Joris (Author) , Schiff, Manuel (Author) , Haack, Tobias B. (Author) , Syrbe, Steffen (Author) , Zylicz, Stas A. (Author) , Thiel, Christian (Author) , Veiga da Cunha, Maria (Author) , van Schaftingen, Emile (Author) , Wagner, Matias (Author) , Mayr, Johannes A. (Author) , Wevers, Ron A. (Author) , Boltshauser, Eugen (Author) , Willemsen, Michel A. (Author) ,

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PPA1 deficiency causes a deranged galactose metabolism recognizable in neonatal screening by Achleitner, Melanie T. (Author) , Jans, Judith J. M. (Author) , Ebner, Laura (Author) , Spenger, Johannes (Author) , Konstantopoulou, Vassiliki (Author) , Feichtinger, René G. (Author) , Brugger, Karin (Author) , Mayr, Doris (Author) , Wevers, Ron A. (Author) , Thiel, Christian (Author) , Wortmann, Saskia B. (Author) , Mayr, Johannes A. (Author) ,

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• Verlag, lizenzpflichtig, Volltext

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies by Morava-Kozicz, Eva (Author) , Tiemes, Vera (Author) , Thiel, Christian (Author) , Seta, Nathalie (Author) , Lonlay, Pascale de (Author) , Klerk, Hans de (Author) , Mulder, Margot (Author) , Rubio‐Gozalbo, Estela (Author) , Visser, Gepke (Author) , Hasselt, Peter van (Author) , Horovitz, Dafne D. G. (Author) , Souza, Carolina Fischinger Moura de (Author) , Schwartz, Ida V. D. (Author) , Green, Andrew (Author) , Al‐Owain, Mohammed (Author) , Uziel, Graciella (Author) , Sigaudy, Sabine (Author) , Chabrol, Brigitte (Author) , Spronsen, Franc-Jan van (Author) , Steinert, Martin (Author) , Komini, Eleni (Author) , Wurm, Donald (Author) , Bevot, Andrea (Author) , Ayadi, Addelkarim (Author) , Huijben, Karin (Author) , Dercksen, Marli (Author) , Witters, Peter (Author) , Jaeken, Jaak (Author) , Matthijs, Gert (Author) , Lefeber, Dirk J. (Author) , Wevers, Ron A. (Author) ,

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• Verlag, lizenzpflichtig, Volltext

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies by Morava-Kozicz, Eva (Author) , Tiemes, Vera (Author) , Thiel, Christian (Author) , Seta, Nathalie (Author) , Lonlay, Pascale de (Author) , Klerk, Hans de (Author) , Mulder, Margot (Author) , Rubio‐Gozalbo, Estela (Author) , Visser, Gepke (Author) , Hasselt, Peter van (Author) , Horovitz, Dafne D. G. (Author) , Souza, Carolina Fischinger Moura de (Author) , Schwartz, Ida V. D. (Author) , Green, Andrew (Author) , Al‐Owain, Mohammed (Author) , Uziel, Graciella (Author) , Sigaudy, Sabine (Author) , Chabrol, Brigitte (Author) , Spronsen, Franc-Jan van (Author) , Steinert, Martin (Author) , Komini, Eleni (Author) , Wurm, Donald (Author) , Bevot, Andrea (Author) , Ayadi, Addelkarim (Author) , Huijben, Karin (Author) , Dercksen, Marli (Author) , Witters, Peter (Author) , Jaeken, Jaak (Author) , Matthijs, Gert (Author) , Lefeber, Dirk J. (Author) , Wevers, Ron A. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood

Other Authors: “…Wevers, Ron A.…”

MACS syndrome: a combined collagen and elastin disorder due to abnormal Golgi trafficking by Albrecht, Beate Hilde (Author) , de Brouwer, Arjan P. (Author) , Lefeber, Dirk J. (Author) , Cremer, Kirsten (Author) , Haußer-Siller, Ingrid (Author) , Rossen, Nick (Author) , Wortmann, Saskia B. (Author) , Wevers, Ron A. (Author) , Kornak, Uwe (Author) , Morava, Eva (Author) ,

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• Verlag, lizenzpflichtig, Volltext

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder by Leen, Wilhelmina (Author) , Klepper, Joerg (Author) , Verbeek, Marcel M. (Author) , Leferink, Maike (Author) , Hofste, Tom (Author) , van Engelen, Baziel G. (Author) , Wevers, Ron A. (Author) , Arthur, Todd (Author) , Bahi-Buisson, Nadia (Author) , Ballhausen, Diana (Author) , Bekhof, Jolita (Author) , van Bogaert, Patrick (Author) , Carrilho, Inês (Author) , Chabrol, Brigitte (Author) , Champion, Michael P. (Author) , Coldwell, James (Author) , Clayton, Peter (Author) , Donner, Elizabeth (Author) , Evangeliou, Athanasios (Author) , Ebinger, Friedrich (Author) , Farrell, Kevin (Author) , Forsyth, Rob J. (Author) , de Goede, Christian G. E. L. (Author) , Gross, Stephanie (Author) , Grunewald, Stephanie (Author) , Holthausen, Hans (Author) , Jayawant, Sandeep (Author) , Lachlan, Katherine (Author) , Laugel, Vincent (Author) , Leppig, Kathy (Author) , Lim, Ming J. (Author) , Mancini, Grazia (Author) , Marina, Adela Della (Author) , Martorell, Loreto (Author) , McMenamin, Joe (Author) , Meuwissen, Marije E. C. (Author) , Mundy, Helen (Author) , Nilsson, Nils O. (Author) , Panzer, Axel (Author) , Poll-The, Bwee T. (Author) , Rauscher, Christian (Author) , Rouselle, Christophe M. R. (Author) , Sandvig, Inger (Author) , Scheffner, Thomas (Author) , Sheridan, Eamonn (Author) , Simpson, Neil (Author) , Sykora, Parol (Author) , Tomlinson, Richard (Author) , Trounce, John (Author) , Webb, David (Author) , Weschke, Bernhard (Author) , Scheffer, Hans (Author) , Willemsen, Michél A. (Author) ,

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A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism by Morava-Kozicz, Eva (Author) , Wevers, Ron A. (Author) , Cantagrel, Vincent (Author) , Hoefsloot, Lies H. (Author) , Al-Gazali, Lihadh (Author) , Schoots, Jeroen (Author) , Rooij, Arno van (Author) , Huijben, Karin (Author) , Ravenswaaij-Arts, Connie M. A. van (Author) , Jongmans, Marjolein C. J. (Author) , Sykut-Cegielska, Jolanta (Author) , Hoffmann, Georg F. (Author) , Bluemel, Peter (Author) , Adamowicz, Maciej (Author) , Reeuwijk, Jeroen van (Author) , Ng, Bobby G. (Author) , Bergman, Jorieke E. H. (Author) , van Bokhoven, Hans (Author) , Körner, Christian (Author) , Babovic-Vuksanovic, Dusica (Author) , Willemsen, Michel A. (Author) , Gleeson, Joseph G. (Author) , Lehle, Ludwig (Author) , Brouwer, Arjan P. M. de (Author) , Lefeber, Dirk J. (Author) ,

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Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis by Willemsen, Michèl A. (Author) , Verbeek, Marcel M. (Author) , Kamsteeg, Erik-Jan (Author) , Rijk-van Andel, Johanneke F. de (Author) , Aeby, Alec (Author) , Blau, Nenad (Author) , Burlina, Alberto (Author) , Donati, Maria A. (Author) , Geurtz, Ben (Author) , Grattan-Smith, Padraic J. (Author) , Haeussler, Martin (Author) , Hoffmann, Georg F. (Author) , Jung, Hans (Author) , Klerk, Johannis B. de (Author) , Van der Knaap, Marjo S. (Author) , Kok, Fernando (Author) , Leuzzi, Vincenzo (Author) , Lonlay, Pascale de (Author) , Megarbane, Andre (Author) , Monaghan, Hugh (Author) , Renier, Willy O. (Author) , Rondot, Pierre (Author) , Ryan, Monique M. (Author) , Seeger, Jürgen (Author) , Smeitink, Jan A. (Author) , Steenbergen-Spanjers, Gerry C. (Author) , Wassmer, Evangeline (Author) , Weschke, Bernhard (Author) , Wijburg, Frits A. (Author) , Wilcken, Bridget (Author) , Zafeiriou, Dimitrios I. (Author) , Wevers, Ron A. (Author) ,

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Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia by Hoffmann, Georg F. (Author) , Assmann, Birgit (Author) , Bräutigam, Christa (Author) , Dionisi‐Vici, Carlo (Author) , Häussler, Martin (Author) , Klerk, Johannes B. C. De (Author) , Naumann, Markus (Author) , Steenbergen‐Spanjers, Gerry C. H. (Author) , Strassburg, Hans-Michael (Author) , Wevers, Ron A. (Author) ,

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• Verlag, lizenzpflichtig, Volltext