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1. • Journal article

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   What challenges for the management of rare diseases? Current situation in Europe and Belgium [Quels sont les défis pour la prise en charge des maladies rares: états des lieux en europe et en belgique]

   Nathalie Lannoy[UCL] Vincent, Marie-Françoise[UCL] Fabienne Lohest[UCL] Hermans, Cédric[UCL] (2019) Louvain médical — Vol. 138, no.2, p. 95-106 (2019)
2. • Journal article

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   Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.

   Baguette, Christel Vermylen, Christiane[UCL] Brichard, Bénédicte[UCL] Louis, Jacques Dahan, Karin[UCL] Vincent, Marie-Françoise[UCL] Cornu, Guy[UCL] (2002) Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology — Vol. 24, no. 1, p. 69-71 (2002)
3. • Journal article

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   Prenatal diagnosis in adenylosuccinate lyase deficiency.

   Marie, S.[UCL] Flipsen, J W Duran, M. Poll-The, B T Beemer, F A Bosschaart, A N Vincent, Marie-Françoise[UCL] Van den Berghe, Georges[UCL] (2000) Prenatal diagnosis — Vol. 20, no. 1, p. 33-6 (2000)
4. • Journal article

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   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)
5. • Journal article

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   L-2-hydroxyglutaric aciduria, a defect of metabolite repair.

   Rzem, Rim[UCL] Vincent, Marie-Françoise[UCL] Van Schaftingen, Emile[UCL] Veiga da Cunha, Maria[UCL] (2007) Journal of Inherited Metabolic Disease — Vol. 30, no. 5, p. 681-689 (2007)
6. • Journal article

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   Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.

   Brouns, Raf Sheorajpanday, Rishi Braxel, Ellen Eyskens, François Baker, Robert Hughes, Derralynn Mehta, Atul Timmerman, Thérèse[UCL] Vincent, Marie-Françoise[UCL] De Deyn, Peter Paul (2007) Clinical neurology and neurosurgery — Vol. 109, no. 6, p. 479-84 (2007)
7. • Journal article

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   Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia

   Wiame, Elsa[UCL] Tyteca, Donatienne[UCL] Pierrot, Nathalie[UCL] Collard, François[UCL] Amyere, Mustapha[UCL] Noël, Gaëtane[UCL] Desmedt, Jonathan[UCL] Nassogne, Marie-Cécile[UCL] Vikkula, Miikka[UCL] Octave, Jean-Noël[UCL] Vincent, Marie-Françoise[UCL] Courtoy, Pierre J.[UCL] Boltshauser, Eugen Van Schaftingen, Emile[UCL] (2010) Biochemical Journal — Vol. 425, no. 1, p. 127-136 (2010)
8. • Journal article

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   Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.

   Marie, S. Race, V Nassogne, Marie-Cécile[UCL] Vincent, Marie-Françoise[UCL] Van den Berghe, Georges[UCL] (2002) American journal of human genetics — Vol. 71, no. 1, p. 14-21 (2002)
9. • Journal article

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   Multiple organ failure after an overdose of less than 0.4 mg/kg of colchicine: role of coingestants and drugs during intensive care management.

   Montiel, Virginie[UCL] Vincent, Marie-Françoise[UCL] Bonbled, Frédéric[UCL] Hantson, Philippe[UCL] Huberlant, Vincent (2010) Clinical toxicology (Philadelphia, Pa.) — Vol. 48, no. 8, p. 845-8 (2010)
10. • Journal article

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    Inhibition of fatty acid and cholesterol synthesis by stimulation of AMP-activated protein kinase.

    Henin, N Vincent, Marie-Françoise[UCL] Gruber, H E Van den Berghe, Georges[UCL] (1995) The FASEB journal : official publication of the Federation of American Societies for Experimental Biology — Vol. 9, no. 7, p. 541-6 (1995)
11. • Journal article

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    Stimulation of rat liver AMP-activated protein kinase by AMP analogues.

    Henin, N Vincent, Marie-Françoise[UCL] Van den Berghe, Georges[UCL] (1996) Biochimica et biophysica acta — Vol. 1290, no. 2, p. 197-203 (1996)
12. • Journal article

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    Hypoglycaemic effect of AICAriboside in mice.

    Vincent, Marie-Françoise[UCL] Erion, M D Gruber, H E Van den Berghe, Georges[UCL] (1996) Diabetologia — Vol. 39, no. 10, p. 1148-55 (1996)
13. • Journal article

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    Cell-type specificity of inhibition of glycolysis by 5-amino-4-imidazolecarboxamide riboside. Lack of effect in rabbit cardiomyocytes and human erythrocytes, and inhibition in FTO-2B rat hepatoma cells.

    Javaux, F. Vincent, Marie-Françoise[UCL] Wagner, D R Van den Berghe, Georges[UCL] (1995) The Biochemical journal — Vol. 305 ( Pt 3), p. 913-9 (1995)
14. • Journal article

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    Functional studies in fibroblasts of adenylosuccinase-deficient children.

    Van den Bergh, F Vincent, Marie-Françoise[UCL] Jaeken, J. Van den Berghe, Georges[UCL] (1993) Journal of inherited metabolic disease — Vol. 16, no. 2, p. 425-34 (1993)
15. • Journal article

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    Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl.

    Van den Bergh, F Vincent, Marie-Françoise[UCL] Jaeken, J. Van den Berghe, Georges[UCL] (1993) Journal of inherited metabolic disease — Vol. 16, no. 2, p. 415-24 (1993)
16. • Journal article

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    Purine nucleotide cycle, molecular defects and therapy.

    Van den Berghe, Georges[UCL] Vincent, Marie-Françoise[UCL] Bontemps, Françoise[UCL] (1991) Advances in experimental medicine and biology — Vol. 309B, p. 281-6 (1991)
17. • Journal article

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    Enzymes of the purine nucleotide cycle in muscle of patients with exercise intolerance.

    Operti, M G Vincent, Marie-Françoise[UCL] Brucher, Jean-Marie[UCL] Van den Berghe, Georges[UCL] (1998) Muscle & nerve — Vol. 21, no. 3, p. 401-3 (1998)
18. • Journal article

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    Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency

    Van den Berghe, Georges[UCL] Vincent, Marie-Françoise[UCL] Jaeken, J. (1997) Journal of Inherited Metabolic Disease — Vol. 20, no. 2, p. 193-202 (1997)
19. • Journal article

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    Adenylosuccinase activity and succinylpurine production in fibroblasts of adenylosuccinase-deficient children.

    Van den Bergh, F Vincent, Marie-Françoise[UCL] Jaeken, J. Van den Berghe, Georges[UCL] (1991) Advances in experimental medicine and biology — Vol. 309B, p. 277-80 (1991)
20. • Journal article

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    AICAriboside inhibits gluconeogenesis in isolated rat hepatocytes.

    Vincent, Marie-Françoise[UCL] Marangos, P Gruber, H E Van den Berghe, Georges[UCL] (1991) Advances in experimental medicine and biology — Vol. 309B, p. 359-62 (1991)
21. • Journal article

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    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)
22. • Dissertation

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    AICAriboside, a nucleoside with interesting metabolic properties

    Vincent, Marie-Françoise[UCL] (1997)
23. • Journal article

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    Adenylosuccinate lyase deficiency with novel mutations

    Kurian, MA Champion, MP Marinaki, AM Simmonds, HA Marie, S.[UCL] Vincent, Marie-Françoise[UCL] Van den Berghe, G Duley, JA Fairbanks, LD (2003) Journal of Inherited Metabolic Disease — Vol. 26, no.Suppl 2, p. 130 (2003)
24. • Journal article

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    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)
25. • Journal article

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    Fatal Idiopathic Hyperammonemia after Induction Chemotherapy for Acute Myeloid Leukemia.

    Angelo, Christophe[UCL] Vincent, Marie-Françoise[UCL] Komuta, Mina[UCL] Hantson, Philippe[UCL] Straetmans, Nicole[UCL] Boulet, Edwige[UCL] (2020) Case reports in hematology — Vol. 2020, p. 3136074 [1-4] (2020)

Pages