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Displaying 23 results.
    • Journal article
    Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.
    Edery, Patrick Chabrier, Stéphane Ceballos-Picot, Irène Marie, Sandrine[UCL] Vincent, Marie-Françoise[UCL] Tardieu, Marc (2003) American journal of medical genetics. Part A — Vol. 120A, no. 2, p. 185-90 (2003)
    • Journal article
    AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.
    Marie, Sandrine[UCL] Heron, Benedicte Bitoun, Pierre Timmerman, Thérèse[UCL] Van den Berghe, Georges[UCL] Vincent, Marie-Françoise[UCL] (2004) American journal of human genetics — Vol. 74, no. 6, p. 1276-81 (2004)
    • Journal article
    Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.
    Janssens, Virginie[UCL] Gaide Chevronnay, Héloïse[UCL] Marie, Sandrine[UCL] Vincent, Marie-Françoise[UCL] Van Der Smissen, Patrick[UCL] Nevo, Nathalie Vainio, Seppo Nielsen, Rikke Christensen, Erik I Jouret, François Antignac, Corinne Pierreux, Christophe[UCL] Courtoy, Pierre J.[UCL] (2019) Journal of the American Society of Nephrology : JASN — Vol. 30, no.11, p. 2177-2190 (2019)
    • BookChapter
    Disorders of purine and pyrimidine metabolism
    van den Berghe, Georges[UCL] Vincent, Marie-Françoise[UCL] Marie, Sandrine (2006) Inborn metabolic diseases : diagnosis and treatment — [ISBN : 978-3540287834]
    • Journal article
    AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
    Ramond, Francis Rio, Marlène Héron, Bénédicte Imbard, Apolline Marie, Sandrine[UCL] Billiemaz, Kareen Denommé-Pichon, Anne-Sophie Kuentz, Paul Ceballos, Irène Piraud, Monique Vincent, Marie-Françoise[UCL] Touraine, Renaud (2020) Journal of inherited metabolic disease — Vol. 43, no.6, p. 1254-1264 (2020)
    • Journal article
    DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia
    Dewulf, Joseph P.[UCL] Marie, Sandrine[UCL] Chevalier, Nathalie[UCL] Veiga da Cunha, Maria[UCL] (2023) Molecular Genetics and Metabolism — Vol. 140, no. 3 (2023)
    • Journal article
    Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
    Gitiaux, Cyril Ceballos-Picot, Irène Marie, Sandrine[UCL] Valayannopoulos, Vassili Rio, Marlène Verrieres, Séverine Benoist, Jean François Vincent, Marie-Françoise[UCL] Desguerre, Isabelle Bahi-Buisson, Nadia (2009) European journal of human genetics : EJHG — Vol. 17, no. 1, p. 133-6 (2009)
    • Journal article
    Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly
    Nassogne, Marie-Cécile[UCL] Henrot, Brigitte[UCL] Aubert, Geneviève[UCL] Bonnier, Christine[UCL] Marie, Sandrine Saint-Martin, Christine[UCL] Van den Berghe, Georges[UCL] Sebire, Guillaume[UCL] Vincent, Marie-Françoise[UCL] (2000) Brain & Development — Vol. 22, no. 6, p. 383-386 (2000)
    • Journal article
    Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype causedby a novel pathogenic variant in ATIC gene
    Galli, Jessica Valente, Enza Maria Dewulf, Joseph P[UCL] Franzoni, Alessandra Marie, Sandrine[UCL] Plumari, Massimo Zanetti, Federica Fazzi, Elisa (2023) American Journal of Medical Genetics Part A — (2023)
    • Journal article
    Neonatal thyroid-stimulating hormone concentrations in Belgium: a useful indicator for detecting mild iodine deficiency?
    Vandevijvere, Stefanie Coucke, Wim Vanderpas, Jean Trumpff, Caroline Fauvart, Maarten Meulemans, Ann Marie, Sandrine[UCL] Vincent, Marie-Françoise[UCL] Schoos, Roland Boemer, François Vanwynsberghe, Timothy Philips, Eddy Eyskens, François Wuyts, Brigitte Selimaj, Valbona Van Overmeire, Bart Kirkpatrick, Christine Van Oyen, Herman Moreno-Reyes, Rodrigo (2012) PLoS One — Vol. 7, no.10, p. e47770 [1-6] (2012)
    • Journal article
    Neurological presentations of inborn errors of purine and pyrimidine metabolism
    Nassogne, Marie-Cécile[UCL] Marie, Sandrine[UCL] Dewulf, Joseph P.[UCL] (2024) Inborn Errors of Metabolism: Physiology and Biochemistry — (2024)
    • Journal article
    Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study
    Everard, Emilie[UCL] laeremans Hilde Boemer François Marie, Sandrine Vincent, Marie-Françoise[UCL] Dewulf, Joseph P.[UCL] debray, François-Guillaume De Laet Corinne Nassogne, Marie-Cécile[UCL] (2024) Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric — (2024)
    • Journal article
    Disorders of purine biosynthesis metabolism.
    Dewulf, Joseph P.[UCL] Marie, Sandrine[UCL] Nassogne, Marie-Cécile[UCL] (2022) Molecular genetics and metabolism — Vol. 136, no. 3, p. 190-198 (2022)
    • Journal article
    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)
    • Journal article
    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)
    • Journal article
    DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia
    Dewulf, Joseph P.[UCL] Chevalier, Nathalie[UCL] Marie, Sandrine Veiga da Cunha, Maria[UCL] (2023) Molecular Genetics and Metabolism — Vol. 140, no.3, p. 107712 (2023)
    • Journal article
    Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder
    Demaret, Tanguy[UCL] Roumain, Martin[UCL] Ambroise, Jérôme[UCL] Evraerts, Jonathan[UCL] Ravau, Joachim[UCL] Bouzin, Caroline[UCL] Bearzatto, Bertrand[UCL] Gala, Jean-Luc[UCL] Stepman, Hedwig Marie, Sandrine Vincent, Marie-Françoise[UCL] Muccioli, Giulio[UCL] Najimi, Mustapha[UCL] Sokal, Etienne[UCL] (2020) Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease — Vol. 1866, no. 11, p. 165900 [1-18] (2020)
    • Journal article
    Tyrosinemia Type III detected via neonatal screening: Management and outcome.
    Heylen, Evelyne[UCL] Scherer, Gerd Vincent, Marie-Françoise[UCL] Marie, Sandrine[UCL] Fischer, Judith Nassogne, Marie-Cécile[UCL] (2012) Molecular Genetics and Metabolism — Vol. 107, no. 3, p. 605-607 (2012)
    • Speech
    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
    • Journal article
    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)
    • Speech
    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
    • Journal article
    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)
    • Journal article
    Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency
    Zulfiqar, Maria Lin, Doris D.M. Van Der Graaf, Marinette Barker, Peter B. Fahrner, Jill A. Marie, Sandrine[UCL] Morava, Eva De Boer, Lonneke Willemsen, Michel A.A.P. Vining, Eileen Horská, Alena Engelke, Udo Wevers, Ron A. Maegawa, Gustavo H.B. (2013) Journal of Magnetic Resonance Imaging — Vol. 37, no. 4, p. 974-980 (2013)