Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor von Wortmann, Saskia B., Van Hove, Johan L.K., Derks, Terry G.J., Chevalier, Nathalie, Knight, Vijaya, Koller, Andreas, Oussoren, Esmee, Mayr, Johannes A., van Spronsen, Francjan J., Lagler, Florian B., Gaughan, Sommer, Van Schaftingen, Emile, Veiga-da-Cunha, Maria

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Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency von Veiga-da-Cunha, Maria, Chevalier, Nathalie, Stephenne, Xavier, Defour, Jean-Philippe, Paczia, Nicole, Ferster, Alina, Achouri, Younes, Dewulf, Joseph P., Linster, Carole L., Bommer, Guido T., Van Schaftingen, Emile

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Phosphoglycolate has profound metabolic effects but most likely no role in a metabolic DNA response in cancer cell lines von Gerin, Isabelle, Bury, Marina, Baldin, Francesca, Graff, Julie, Van Schaftingen, Emile, Bommer, Guido T

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TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation von Foulquier, François, Amyere, Mustapha, Jaeken, Jaak, Zeevaert, Renate, Schollen, Els, Race, Valérie, Bammens, Riet, Morelle, Willy, Rosnoblet, Claire, Legrand, Dominique, Demaegd, Didier, Buist, Neil, Cheillan, David, Guffon, Nathalie, Morsomme, Pierre, Annaert, Willem, Freeze, Hudson H., Van Schaftingen, Emile, Vikkula, Miikka, Matthijs, Gert

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Enzymatic repair of Amadori products von Van Schaftingen, Emile, Collard, François, Wiame, Elsa, Veiga-da-Cunha, Maria

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Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations von Fusaro, Mathieu, Vincent, Aline, Castelle, Martin, Rosain, Jérémie, Fournier, Benjamin, Veiga-da-Cunha, Maria, Kentache, Takfarinas, Serre, Jill, Fallet-Bianco, Catherine, Delezoide, Anne-Lise, Renesme, Laurent, Picard, Fanny Morice, Lasseaux, Eulalie, Aladjidi, Nathalie, Seta, Nathalie, Cormier-Daire, Valérie, Schaftingen, Emile van, Neven, Bénédicte, Moshous, Despina, Blesson, Sophie, Picard, Capucine

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Metabolite proofreading, a neglected aspect of intermediary metabolism von Van Schaftingen, Emile, Rzem, Rim, Marbaix, Alexandre, Collard, François, Veiga-da-Cunha, Maria, Linster, Carole L.

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D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants von Pop, Ana, Struys, Eduard A., Jansen, Erwin E. W., Fernandez, Matilde R., Kanhai, Warsha A., Dooren, Silvy J. M., Ozturk, Senay, Oostendorp, Justin, Lennertz, Pascal, Kranendijk, Martijn, Knaap, Marjo S., Gibson, K. Michael, Schaftingen, Emile, Salomons, Gajja S.

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NAT6 acetylates the N‐terminus of different forms of actin von Wiame, Elsa, Tahay, Gaëlle, Tyteca, Donatienne, Vertommen, Didier, Stroobant, Vincent, Bommer, Guido T., Van Schaftingen, Emile

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Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction von Koehler, Katrin, Malik, Meera, Mahmood, Saqib, Gießelmann, Sebastian, Beetz, Christian, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nürnberg, Gudrun, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Brämswig, Jürgen, Mühlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile, Kurth, Ingo, Huebner, Angela, Hübner, Christian A.

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Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia von Wiame, Elsa, Tyteca, Donatienne, Pierrot, Nathalie, Collard, François, Amyere, Mustapha, Noel, Gaëtane, Desmedt, Jonathan, Nassogne, Marie-Cécile, Vikkula, Miikka, Octave, Jean-Noël, Vincent, Marie-Françoise, Courtoy, Pierre J, Boltshauser, Eugen, van Schaftingen, Emile

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Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5 von Boulanger, Cécile, Stephenne, Xavier, Diederich, Jennifer, Mounkoro, Pierre, Chevalier, Nathalie, Ferster, Alina, Van Schaftingen, Emile, Veiga‐da‐Cunha, Maria

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Molecular Identification of Carnosine Synthase as ATP-grasp Domain-containing Protein 1 (ATPGD1) von Drozak, Jakub, Veiga-da-Cunha, Maria, Vertommen, Didier, Stroobant, Vincent, Van Schaftingen, Emile

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Inborn errors of metabolite repair von Veiga‐da‐Cunha, Maria, Van Schaftingen, Emile, Bommer, Guido T.

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ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan von Gerin, Isabelle, Ury, Benoît, Breloy, Isabelle, Bouchet-Seraphin, Céline, Bolsée, Jennifer, Halbout, Mathias, Graff, Julie, Vertommen, Didier, Muccioli, Giulio G., Seta, Nathalie, Cuisset, Jean-Marie, Dabaj, Ivana, Quijano-Roy, Susana, Grahn, Ammi, Van Schaftingen, Emile, Bommer, Guido T.

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HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase von Preumont, Alice, Rzem, Rim, Vertommen, Didier, Van Schaftingen, Emile

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Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway von Hart, Claire E., Race, Valerie, Achouri, Younes, Wiame, Elsa, Sharrard, Mark, Olpin, Simon E., Watkinson, Jennifer, Bonham, James R., Jaeken, Jaak, Matthijs, Gert, Van Schaftingen, Emile

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Multiple Phenotypes in Phosphoglucomutase 1 Deficiency von Tegtmeyer, Laura C, Rust, Stephan, van Scherpenzeel, Monique, Ng, Bobby G, Losfeld, Marie-Estelle, Timal, Sharita, Raymond, Kimiyo, He, Ping, Ichikawa, Mie, Veltman, Joris, Huijben, Karin, Shin, Yoon S, Sharma, Vandana, Adamowicz, Maciej, Lammens, Martin, Reunert, Janine, Witten, Anika, Schrapers, Esther, Matthijs, Gert, Jaeken, Jaak, Rymen, Daisy, Stojkovic, Tanya, Laforêt, Pascal, Petit, François, Aumaître, Olivier, Czarnowska, Elzbieta, Piraud, Monique, Podskarbi, Teodor, Stanley, Charles A, Matalon, Reuben, Burda, Patricie, Seyyedi, Soraya, Debus, Volker, Socha, Piotr, Sykut-Cegielska, Jolanta, van Spronsen, Francjan, de Meirleir, Linda, Vajro, Pietro, DeClue, Terry, Ficicioglu, Can, Wada, Yoshinao, Wevers, Ron A, Vanderschaeghe, Dieter, Callewaert, Nico, Fingerhut, Ralph, van Schaftingen, Emile, Freeze, Hudson H, Morava, Eva, Lefeber, Dirk J, Marquardt, Thorsten

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Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells von Demaegd, Didier, Foulquier, François, Colinet, Anne-Sophie, Gremillon, Louis, Legrand, Dominique, Mariot, Pascal, Peiter, Edgar, Van Schaftingen, Emile, Matthijs, Gert, Morsomme, Pierre

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Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria von Struys, Eduard A., Salomons, Gajja S., Achouri, Younes, Van Schaftingen, Emile, Grosso, Salvatore, Craigen, William J., Verhoeven, Nanda M., Jakobs, Cornelis

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