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1. • Speech

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   Biallelic SLC13A3 mutations cause reversible leukoencephalopathy with accumulation of alpha-ketoglutarate

   Dewulf, Joseph P.[UCL] (2018) Society for the study of Inborn errors of Metabolism (SSIEM 2018) — Athens, Greece
2. • Journal article

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   Hepatic glycogen phosphorylase kinase deficiency, a challenging diagnosis [Déficience en glycogène phosphorylase kinase hépatique, un diagnostic difficile]

   de bruyne caroline[UCL] Dewulf, Joseph P.[UCL] Komuta, Mina[UCL] Sokal, Etienne[UCL] (2016) Louvain médical — Vol. 135, no.7, p. 452-460 (2016)
3. • Speech

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   Three families sharing acyl-coA dehydrogenase 9 deficiency : from severe neonatal cardiomyopathy to ventricular hypertrophy diagnosed at 12 years

   Dewulf, Joseph P.[UCL] Barréa, Catherine[UCL] Vincent, Marie-Francoise[UCL] de laet, corinne Van Coster, Rudy Seneca, Sara Marie, Sandrine[UCL] Nassogne, Marie-Cécile[UCL] (2015) SSIEM — Lyon
4. • Journal article

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   Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients

   Dewulf, Joseph P.[UCL] Barréa, Catherine[UCL] Vincent, Marie-Françoise[UCL] De Laet, Corinne Van Coster, Rudy Seneca, Sara Marie, Sandrine Nassogne, Marie-Cécile[UCL] (2016) Molecular Genetics and Metabolism — Vol. 118, no. 3, p. 185-189 (2016)
5. • Journal article

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   SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.

   Dewulf, Joseph P.[UCL] Wiame, Elsa[UCL] Dorboz, Imen Elmaleh-Bergès, Monique Imbard, Apolline Dumitriu, Dana Loana[UCL] Rak, Malgorzata Bourillon, Agnès Helaers, Raphaël[UCL] Malla, Alisha Renaldo, Florence Boespflug-Tanguy, Odile Vincent, Marie-Françoise[UCL] Benoist, Jean-François Wevers, Ron A Schlessinger, Avner Van Schaftingen, Emile[UCL] Nassogne, Marie-Cécile[UCL] Schiff, Manuel (2019) Annals of neurology — Vol. 85, no. 3, p. 385-395 (2019)
6. • 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)
7. • Journal article

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   Human cytosolic transaminases: side activities and patterns of discrimination towards physiologically available alternative substrates

   Caligiore, Francesco[UCL] Zangelmi, Erika Vetro, Carola Kentache, Takfarinas[UCL] Dewulf, Joseph P.[UCL] Veiga da Cunha, Maria[UCL] Van Schaftingen, Emile[UCL] Bommer, Guido[UCL] Peracchi, Alessio (2022) Cellular and Molecular Life Sciences — Vol. 79, no.8, p. 421 (2022)
8. • 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)
9. • Journal article

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   ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism.

   Dewulf, Joseph P.[UCL] Paquay, Stéphanie[UCL] Marbaix, Etienne[UCL] Achouri, Younes[UCL] Van Schaftingen, Emile[UCL] Bommer, Guido[UCL] (2021) The Journal of biological chemistry — Vol. 297, no.4, p. 101083 (2021)
10. • Speech

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    Development and validation of a simple LC-MS/MS method for the quantification of MTHF in human cerebrospinal fluid using deuterated MTHF as internal standard

    Dewulf, Joseph P.[UCL] Vanderstocken, Christophe[UCL] Nassogne, Marie-Cécile[UCL] Marie, Sandrine[UCL] Vincent, Marie-Françoise[UCL] (2013) International Congress of Inborn Errors of Metabolism (ICIEM) — Barcelona, Spain
11. • Speech

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    ECHDC1 prevents the synthesis of branched fatty acids

    Dewulf, Joseph P.[UCL] (2019) Keystone symposium: Lipidomics and functional metabolic pathways in disease — Steamboat Springs, Colorado, U.S.A.
12. • Journal article

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    Long-term Stability of Cocaine Hydrochloride Aqueous Solution 50 mg/mL (5%) at Room Temperature and at 5°C ± 3°C in Glass Bottles.

    Dewulf, Joseph P.[UCL] Hecq, Jean-Daniel[UCL] Huvelle, Sophie[UCL] Godet, Marie[UCL] Gillet, Patricia[UCL] Jamart, Jacques[UCL] Galanti, Laurence[UCL] (2015) International Journal of Pharmaceutical Compounding — Vol. 19, no.3, p. 268-270 (2015)
13. • Journal article

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    Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.

    Boemer, François Caberg, Jean-Hubert Beckers, Pablo Dideberg, Vinciane di Fiore, Samantha Bours, Vincent Marie, Sandrine[UCL] Dewulf, Joseph P.[UCL] Marcelis, Lionel Deconinck, Nicolas Daron, Aurore Blasco-Perez, Laura Tizzano, Eduardo Hiligsmann, Mickaël Lombet, Jacques Pereira, Tatiana Lopez-Granados, Lucia Shalchian-Tehran, Sarvnaz van Assche, Véronique Willems, Arabelle Huybrechts, Sofie Mast, Bénédicte van Olden, Rudolf Dangouloff, Tamara Servais, Laurent (2021) Scientific reports — Vol. 11, no.1, p. 19922 (2021)
14. • Speech

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    Fluorotype MTB assay for rapid diagnosis in pulmonary and extrapulmonary samples

    Dewulf, Joseph P.[UCL] Tancre, Anne-Sophie[UCL] Bressant, Florian[UCL] Colmant, Alexandre[UCL] Kabamba-Mukadi, Benoît[UCL] André, Emmanuel[UCL] (2014) BVKB-SBBC & KBVKC-RSBBC Annual Meeting 2014 — Leuven
15. • Dissertation

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    Ethylmalonyl-CoA decarboxylase (ECHDC1) prevents the synthesis of methyl- and ethyl-branched fatty acids

    Dewulf, Joseph P.[UCL] (2019)
16. • Journal article

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    Disorders of purine biosynthesis metabolism.

    Dewulf, Joseph P.[UCL] Marie, Sandrine[UCL] Nassogne, Marie-Cécile[UCL] (2021) Molecular genetics and metabolism — Vol. 06860, no.2, p. 9 (2021)
17. • Speech

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    Le dépistage néonatal de l'amyotrophie spinale et les nouvelles thérapies associées

    Dewulf, Joseph P.[UCL] (2022) Maladies rares —
18. • Journal article

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    Une anémie de Biermer se dissimulant sous les traits d’une anémie normocytaire

    Dewulf, Joseph P.[UCL] Dermine, Alexandre[UCL] Defour, Jean-Philippe[UCL] Vekemans, Marie-Christiane[UCL] (2015) Louvain médical — Vol. 134, no. 7, p. 381-388 (2015)
19. • Journal article

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    SARS-CoV-2 causes a specific dysfunction of the kidney proximal tubule.

    Wérion, Alexis[UCL] Belkhir, Leïla[UCL] Perrot, Marie[UCL] Schmit, Gregory[UCL] Aydin, Selda[UCL] Chen, Zhiyong Penaloza-Baeza, Andrea[UCL] De Greef, Julien[UCL] Yildiz, Halil[UCL] Pothen, Lucie[UCL] Yombi, Jean Cyr[UCL] Dewulf, Joseph P.[UCL] Scohy, Anaïs[UCL] Gérard, Ludovic[UCL] Wittebole, Xavier[UCL] Laterre, Pierre-François[UCL] Miller, Sara E Devuyst, Olivier[UCL] Jadoul, Michel[UCL] Morelle, Johann[UCL] Cliniques universitaires Saint-Luc (CUSL) COVID-19 Research Group Gohy, Sophie[UCL] (2020) Kidney international — Vol. 98, no. 5, p. 1296-1307 (2020)
20. • Journal article

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    Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis

    Krohn, Patrick Rega, Laura Rita Harvent, Marianne Festa, Beatrice Paola Taranta, Anna Luciani, Alessandro Dewulf, Joseph P.[UCL] Cremonesi, Alessio Camassei, Francesca Diomedi Hanson, James V M Gerth-Kahlert, Christina Emma, Francesco Berquez, Marine Devuyst, Olivier[UCL] (2022) Human Molecular Genetics — Vol. 31, no.13, p. 2262-2278 (2022)
21. • Journal article

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    A fortuitous but characteristic blood smear observation allowing a late diagnosis of MPS-VII

    Goudji, Cedrick W. Schick, Tobias Cherkaoui, Sara Camaiani, Massimo Dewulf, Joseph P.[UCL] Nassogne, Marie-Cecile Chevalier, Charles (2021) Clinical Chemistry and Laboratory Medicine (CCLM) — Vol. 60, no.3, p. 85-87 (2021)
22. • Journal article

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    Duodenal CD8+ T resident memory cell apoptosis contributes to gut barrier dysfunction and microbial translocation in early alcohol-associated liver disease in humans.

    Maccioni, Luca[UCL] Loriot, Axelle[UCL] Dewulf, Joseph P.[UCL] Bommer, Guido[UCL] Horsmans, Yves[UCL] Lanthier, Nicolas[UCL] Leclercq, Isabelle[UCL] Schnabl, Bernd Stärkel, Peter[UCL] (2022) Alimentary pharmacology & therapeutics — Vol. 56, no.6, p. 1055-1070 (2022)
23. • Journal article

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    C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

    Lausberg, Eva Gießelmann, Sebastian Dewulf, Joseph P.[UCL] Wiame, Elsa[UCL] Holz, Anja Salvarinova, Ramona van Karnebeek, Clara D. Klemm, Patricia Ohl, Kim Mull, Michael Braunschweig, Till Weis, Joachim Sommer, Clemens J. Demuth, Stephanie Haase, Claudia Stollbrink-Peschgens, Claudia Debray, François-Guillaume Libioulle, Cecile Choukair, Daniela Oommen, Prasad T. Borkhardt, Arndt Surowy, Harald Wieczorek, Dagmar Wagner, Norbert Meyer, Robert Eggermann, Thomas Begemann, Matthias Van Schaftingen, Emile[UCL] Häusler, Martin Tenbrock, Klaus van den Heuvel, Lambert Elbracht, Miriam Kurth, Ingo Kraft, Florian (2021) The Journal of clinical investigation — Vol. 131, no. 12, p. e143078 [1-13] (2021)
24. • Journal article

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    Unexplained Metabolic Acidosis: Alcoholic Ketoacidosis or Propylene Glycol Toxicity.

    de Landsheere, Fanny[UCL] Saint-Marcoux, Franck Haufroid, Vincent[UCL] Dulaurent, Sylvain Dewulf, Joseph P.[UCL] Boland, Lidvine[UCL] Laterre, Pierre-François[UCL] Hantson, Philippe[UCL] (2022) Journal of medical toxicology — Vol. 18, no. 2, p. 155-158 (2022)
25. • Journal article

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    Urine metabolomics links dysregulation of the tryptophan-kynurenine pathway to inflammation and severity of COVID-19.

    Dewulf, Joseph P.[UCL] Martin, Manon[UCL] Marie, Sandrine[UCL] Oguz, Fabie[UCL] Belkhir, Leïla[UCL] De Greef, Julien[UCL] Yombi, Jean Cyr[UCL] Wittebole, Xavier[UCL] Laterre, Pierre-François[UCL] Jadoul, Michel[UCL] Gatto, Laurent[UCL] Bommer, Guido[UCL] Morelle, Johann[UCL] (2022) Scientific reports — Vol. 12, no. 1, p. 9959 [1-8] (2022)

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