Search Results - van Schaftingen, Emile

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    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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    Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria by Nota, Benjamin (Author) , Struys, Eduard A. (Author) , Pop, Ana (Author) , Jansen, Erwin E. (Author) , Fernandez Ojeda, Matilde R. (Author) , Kanhai, Warsha A. (Author) , Kranendijk, Martijn (Author) , van Dooren, Silvy J. M. (Author) , Bevova, Marianna R. (Author) , Sistermans, Erik A. (Author) , Nieuwint, Aggie W. M. (Author) , Barth, Magalie (Author) , Ben-Omran, Tawfeg (Author) , Hoffmann, Georg F. (Author) , de Lonlay, Pascale (Author) , McDonald, Marie T. (Author) , Meberg, Alf (Author) , Muntau, Ania C. (Author) , Nuoffer, Jean-Marc (Author) , Parini, Rossella (Author) , Read, Marie-Hélène (Author) , Renneberg, Axel (Author) , Santer, René (Author) , Strahleck, Thomas (Author) , van Schaftingen, Emile (Author) , van der Knaap, Marjo S. (Author) , Jakobs, Cornelis (Author) , Salomons, Gajja S. (Author) ,


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