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1. • Journal article

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   Identification of a pathway for the utilization of the Amadori product fructoselysine in Escherichia coli.

   Wiame, Elsa[UCL] Delpierre, Ghislain[UCL] Collard, François[UCL] Van Schaftingen, Emile[UCL] (2002) The Journal of biological chemistry — Vol. 277, no. 45, p. 42523-9 (2002)
2. • Journal article

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   Study of the regulatory properties of glucokinase by site-directed mutagenesis: conversion of glucokinase to an enzyme with high affinity for glucose.

   Moukil, M A Veiga da Cunha, Maria[UCL] Van Schaftingen, Emile[UCL] (2000) Diabetes — Vol. 49, no. 2, p. 195-201 (2000)
3. • Journal article

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   The prenatal diagnosis of congenital disorders of glycosylation (CDG).

   Matthijs, Gert Schollen, Els Van Schaftingen, Emile[UCL] (2004) Prenatal diagnosis — Vol. 24, no. 2, p. 114-6 (2004)
4. • Journal article

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   Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.

   Fusaro, Mathieu Vincent, Aline Castelle, Martin Rosain, Jérémie Fournier, Benjamin Veiga da Cunha, Maria[UCL] Kentache, Takfarinas[UCL] Serre, Jill Fallet-Bianco, Catherine Delezoide, Anne-Lise Renesme, Laurent Picard, Fanny Morice Lasseaux, Eulalie Aladjidi, Nathalie Seta, Nathalie Cormier-Daire, Valérie Van Schaftingen, Emile[UCL] Neven, Bénédicte Moshous, Despina Blesson, Sophie Picard, Capucine (2021) Journal of clinical immunology — Vol. 41, no. 5, p. 958-966 (2021)
5. • Journal article

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   SLC37A4-CDG: Second patient.

   Wilson, Matthew P Quelhas, Dulce Leão-Teles, Elisa Sturiale, Luisa Rymen, Daisy Keldermans, Liesbeth Race, Valérie Souche, Erika Rodrigues, Esmeralda Campos, Teresa Van Schaftingen, Emile[UCL] Foulquier, François Garozzo, Domenico Matthijs, Gert Jaeken, Jaak (2021) JIMD reports — Vol. 58, no.1, p. 122-128 (2021)
6. • Journal article

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   Pathway and regulation of erythritol formation in Leuconostoc oenos.

   Veiga da Cunha, Maria[UCL] Santos, H.[UCL] Van Schaftingen, Emile[UCL] (1993) Journal of bacteriology — Vol. 175, no. 13, p. 3941-8 (1993)
7. • Journal article

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   The gene encoding rat 3-phosphoglycerate dehydrogenase.

   Robbi, Mariette[UCL] Achouri, Younes[UCL] Szpirer, C. Van Schaftingen, Emile[UCL] (2000) Mammalian genome : official journal of the International Mammalian Genome Society — Vol. 11, no. 11, p. 1034-6 (2000)
8. • Journal article

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   A spectrophotometric assay of D-glucuronate based on Escherichia coli uronate isomerase and mannonate dehydrogenase.

   Linster, Carole[UCL] Van Schaftingen, Emile[UCL] (2004) Protein expression and purification — Vol. 37, no. 2, p. 352-60 (2004)
9. • Journal article

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   Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).

   Carchon, H Van Schaftingen, Emile[UCL] Matthijs, G Jaeken, J (1999) Biochimica et Biophysica Acta : international journal of biochemistry and biophysics — Vol. 1455, no.2-3, p. 155-65 (1999)
10. • Journal article

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    Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

    Koehler, Katrin Malik, Meera Mahmood, Saqib Gießelmann, Sebastian Beetz, Christian Hennings, J Christopher Huebner, Antje K Grahn, Ammi[UCL] 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[UCL] Kurth, Ingo Huebner, Angela Hübner, Christian A (2013) American Journal of Human Genetics — Vol. 93, no.4, p. 727-734 (2013)
11. • Journal article

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    Accumulation of metabolic side products might favor the production of ethanol in Pho13 knockout strains

    Bommer, Guido[UCL] Baldin, Francesca[UCL] Van Schaftingen, Emile[UCL] (2016) Microbial Cell — Vol. 3, no. 10, p. 495-499
12. • Journal article

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    D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

    Pop, Ana Struys, Eduard A Jansen, Erwin E W Fernandez, Matilde R Kanhai, Warsha A van Dooren, Silvy J M Ozturk, Senay van Oostendorp, Justin Lennertz, Pascal Kranendijk, Martijn van der Knaap, Marjo S Gibson, K Michael Van Schaftingen, Emile[UCL] Salomons, Gajja S (2019) Human mutation — Vol. 40, no. 7, p. 975-982 (2019)
13. • Journal article

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    Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.

    Veiga da Cunha, Maria[UCL] Chevalier, Nathalie[UCL] Stephenne, Xavier[UCL] Defour, Jean-Philippe[UCL] Paczia, Nicole Ferster, Alina Achouri, Younes[UCL] Dewulf, Joseph P.[UCL] Linster, Carole L Bommer, Guido[UCL] Van Schaftingen, Emile[UCL] (2019) Proceedings of the National Academy of Sciences of the United States of America — Vol. 116, no. 4, p. 1241-1250 (2019)
14. • Journal article

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    Mechanism of the stimulatory effect of a potassium-rich medium on the phosphorylation of glucose in isolated rat hepatocytes.

    Van Schaftingen, Emile[UCL] Vandercammen, A. (1992) European Journal of Biochemistry — Vol. 204, no. 1, p. 363-369 (1992)
15. • Journal article

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    Enzyme complexity in intermediary metabolism

    Van Schaftingen, Emile[UCL] Veiga da Cunha, Maria[UCL] Linster, Carole L. (2015) Journal of Inherited Metabolic Disease — Vol. Published Online (2015)
16. • Journal article

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    A CCAAT DNA binding factor consisting of two different components that are both required for DNA binding.

    Hatamochi, A Golumbek, P T Van Schaftingen, Emile[UCL] de Crombrugghe, B (1988) Journal of Biological Chemistry — Vol. 263, no.12, p. 5940-7 (1988)
17. • Journal article

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    Vertebrate Acyl-CoA Synthetase Family Member 4 (ACSF4-U26) is a β-alanine activating enzyme homologous to bacterial nonribosomal peptide synthetase.

    Drozak, Jakub Veiga da Cunha, Maria[UCL] Kadziolka, Beata Van Schaftingen, Emile[UCL] (2014) FEBS Journal — Vol. 281, no. 6, p. 1585-1597 (2014)
18. • BookChapter

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    Biochemical and functional aspects of the pentose phosphate pathway and the pentose pathway

    Van Schaftingen, Emile[UCL] Linster, C.L. (2005) Clinical and molecular aspects of delects in creatine & polyol metabolism — [ISBN : 3-936145-23-7]
19. • Journal article

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    Prenatal diagnosis in CDG1 families: beware of heterogeneity

    Matthijs, G. Schollen, E. Cassiman, JJ. Cormier-Daire, V Jaeken, J. Van Schaftingen, Emile[UCL] (1998) European Journal of Human Genetics — Vol. 6, no. 2, p. 99-104 (1998)
20. • Journal article

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    Off to a slow start: Analyzing lag phases and accelerating rates in steady-state enzyme kinetics.

    Zangelmi, Erika Ronda, Luca Castagna, Camilla Campanini, Barbara Veiga da Cunha, Maria[UCL] Van Schaftingen, Emile[UCL] Peracchi, Alessio (2020) Analytical biochemistry — Vol. 593, p. 113595 (2020)
21. • Journal article

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    Cloning and sequencing of rat liver cDNAs encoding the regulatory protein of glucokinase.

    Detheux, M Vandekerckhove, J Van Schaftingen, Emile[UCL] (1994) FEBS Letters — Vol. 339, no.3, p. 312 (1994)
22. • Journal article

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    TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation.

    Foulquier, François Amyere, Mustapha Jaeken, Jaak Zeevaert, Renate Schollen, Els Race, Valérie Bammens, Riet Morelle, Willy Rosnoblet, Claire Legrand, Dominique Demaegd, Didier[UCL] Buist, Neil Cheillan, David Guffon, Nathalie Morsomme, Pierre[UCL] Annaert, Willem Freeze, Hudson H Van Schaftingen, Emile Vikkula, Miikka Matthijs, Gert (2012) American Journal of Human Genetics — Vol. 91, no. 1, p. 15-26 (2012)
23. • Journal article

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    The synthesis of branched-chain fatty acids is limited by enzymatic decarboxylation of ethyl- and methylmalonyl-CoA.

    Dewulf, Joseph P.[UCL] Gerin, Isabelle[UCL] Rider, Mark H.[UCL] Veiga da Cunha, Maria[UCL] Van Schaftingen, Emile[UCL] Bommer, Guido[UCL] (2019) The Biochemical journal — Vol. 476, no. 16, p. 2427-2447 (2019)
24. • Journal article

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    A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair

    Rzem, Rim[UCL] Achouri, Younes[UCL] Marbaix, Etienne[UCL] Schakman, Olivier[UCL] Wiame, Elsa[UCL] Marie, Sandrine[UCL] Gailly, Philippe[UCL] Vincent, Marie-Françoise[UCL] Veiga da Cunha, Maria[UCL] Van Schaftingen, Emile[UCL] (2015) PLoS One — Vol. 10, no. 3, p. e0119540 [1-26] (2015)
25. • Journal article

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    Erythritol feeds the pentose phosphate pathway via three new isomerases leading to D-erythrose-4-phosphate inBrucella

    Barbier, Thibault Collard, François[UCL] Zúñiga-Ripa, Amaia Moriyón, Ignacio Godard, Thibault Becker, Judith Wittmann, Christoph Van Schaftingen, Emile[UCL] Letesson, Jean-Jacques (2014) Proceedings of the National academy of sciences of the United States of America — Vol. 111, no.50, p. 17815-17820 (2014)

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