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    • Communication
    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
    • Article de périodique
    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)
    • Communication
    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
    • Article de périodique
    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)
    • Article de périodique
    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)
    • Article de périodique
    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)
    • Article de périodique
    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)
    • Article de périodique
    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)
    • Communication
    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
    • Communication
    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.
    • Article de périodique
    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)
    • Communication
    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
    • Thèse
    Ethylmalonyl-CoA decarboxylase (ECHDC1) prevents the synthesis of methyl- and ethyl-branched fatty acids
    Dewulf, Joseph P.[UCL] (2019)
    • Communication
    Le dépistage néonatal de l'amyotrophie spinale et les nouvelles thérapies associées
    Dewulf, Joseph P.[UCL] (2022) Maladies rares —
    • Article de périodique
    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)
    • Article de périodique
    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 [1-10] (2021)
    • Article de périodique
    Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
    Lucienne, Marie Gerlini, Raffaele Rathkolb, Birgit Calzada-Wack, Julia Forny, Patrick Wueest, Stephan Kaech, Andres Traversi, Florian Forny, Merima Bürer, Céline Aguilar-Pimentel, Antonio Irmler, Martin Beckers, Johannes Sauer, Sven Kölker, Stefan Dewulf, Joseph P.[UCL] Bommer, Guido[UCL] Hoces, Daniel Gailus-Durner, Valerie Fuchs, Helmut Rozman, Jan Froese, D Sean Baumgartner, Matthias R de Angelis, Martin Hrabě (2023) Human molecular genetics — Vol. ., no.., p. . (2023)
    • Article de périodique
    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)
    • Article de périodique
    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)
    • Article de périodique
    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)
    • Article de périodique
    Carnitine Deficiency after Long-Term Continuous Renal Replacement Therapy.
    Van De Wyngaert, Caroline[UCL] Dewulf, Joseph P.[UCL] Collienne, Christine[UCL] Laterre, Pierre-François[UCL] Hantson, Philippe[UCL] (2022) Case reports in critical care — Vol. 2022, p. 4142539 [1-4] (2022)
    • Article de périodique
    HYGIEIA: HYpothesizing the Genesis of Infectious Diseases and Epidemics through an Integrated Systems Biology Approach
    Ward, Bradley[UCL] Yombi, Jean Cyr[UCL] Balligand, Jean-Luc[UCL] Cani, Patrice D.[UCL] Collet, Jean-François[UCL] De Greef, Julien[UCL] Dewulf, Joseph P.[UCL] Gatto, Laurent[UCL] Haufroid, Vincent[UCL] Jodogne, Sébastien[UCL] Kabamba-Mukadi, Benoît[UCL] Pyr dit Ruys, Sébastien[UCL] Vertommen, Didier[UCL] Elens, Laure[UCL] Belkhir, Leïla[UCL] (2022) Viruses — Vol. 14, no. 7, p. 1373 [1-17] (2022)
    • Article de périodique
    Lactic acidosis after allogeneic haematopoietic stem cell transplantation potentially related to letermovir.
    Manczak, Bérénice[UCL] Verdier, Marie-Clémence Dewulf, Joseph P.[UCL] Lemaitre, Florian Haufroid, Vincent[UCL] Hantson, Philippe[UCL] (2023) British journal of clinical pharmacology — Vol. 89, no.5, p. 1686-1689 (2023)
    • Article de périodique
    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)
    • Article de périodique
    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)

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