Resultats de la cerca - Irène Ceballos-Picot

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  1. 1
    Adenine Phosphoribosyltransferase Deficiency

    Adenine Phosphoribosyltransferase Deficiency per Guillaume Bollée, Jérôme Harambat, A Bensman, Bertrand Knebelmann, Michel Daudon, Irène Ceballos-Picot

    Publicat 2012
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  2. 2
    Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis

    Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis per Irène Ceballos-Picot, Lionel Mockel, Marie‐Claude Potier, Luce Dauphinot, Thomas L. Shirley, R. Torero-Ibad, Julia Fuchs, H. A. Jinnah

    Publicat 2009
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  3. 3
    Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency

    Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency per Guillaume Bollée, Cécile Dollinger, Lucile Boutaud, Delphine Guillemot, A Bensman, Jérôme Harambat, P. Deteix, Michel Daudon, Bertrand Knebelmann, Irène Ceballos-Picot

    Publicat 2010
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  4. 4
    New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients

    New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients per Irène Ceballos-Picot, Aurélia Le Dantec, Anaïs Brassier, Jean‐Philippe Jaïs, Morgan Ledroit, Julie Cahu, Hang‐Korng Ea, Bertrand Daignan‐Fornier, Benoı̂t Pinson

    Publicat 2015
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  5. 5
    MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

    MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy per Diego Martinelli, Lorena Travaglini, Christian A. Drouin, Irène Ceballos-Picot, Teresa Rizza, Enrico Bertini, Rosalba Carrozzo, Stefania Petrini, Pascale de Lonlay, Maya El Hachem, Laurence Hubert, Alexandre Montpetit, Giuliano Torre, Carlo Dionisi‐Vici

    Publicat 2013
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  6. 6
    Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

    Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder per Rong Fu, Irène Ceballos-Picot, Rosa J. Torres, Laura E. Laróvere, Yasukazu Yamada, Khue Vu Nguyen, Madhuri Hegde, Jasper E. Visser, David J. Schretlen, William L. Nyhan, Juan Puig, Patrick J. OʼNeill, Hyder A. Jinnah

    Publicat 2013
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  7. 7
    Recurrent 2,8-Dihydroxyadenine Nephropathy: A Rare but Preventable Cause of Renal Allograft Failure

    Recurrent 2,8-Dihydroxyadenine Nephropathy: A Rare but Preventable Cause of Renal Allograft Failure per Mohamad Zaidan, Runólfur Pálsson, Élodie Merieau, Émilie Cornec-Le Gall, A. Garstka, Umberto Maggiore, P. Deteix, Michèle Battista, Ève-Reine Gagné, Irène Ceballos-Picot, J.P. Duong Van Huyen, Christophe Legendre, Michel Daudon, Viðar Ö. Eðvarðsson, Bertrand Knebelmann

    Publicat 2014
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  8. 8
    Attenuated variants of Lesch-Nyhan disease

    Attenuated variants of Lesch-Nyhan disease per H. A. Jinnah, Irène Ceballos-Picot, Rosa J. Torres, Jasper E. Visser, David J. Schretlen, Ana Verdú, Laura E. Laróvere, Chung‐Jen Chen, Antonio Cossu, Chien‐Hui Wu, Radhika Sampat, Shun‐Jen Chang, Raquel Dodelson de Kremer, William L. Nyhan, James C. Harris, Stephen G. Reich, Juan Puig

    Publicat 2010
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  9. 9
    Delineation of the motor disorder of Lesch–Nyhan disease

    Delineation of the motor disorder of Lesch–Nyhan disease per Hyder A. Jinnah, Jasper E. Visser, James C. Harris, Alfonso Verdú, Laura E. Laróvere, Irène Ceballos-Picot, Pedro Gonzalez‐Alegre, Vladimir Neychev, Rosa J. Torres, Olivier Dulac, Isabelle Desguerre, David J. Schretlen, Kenneth L. Robey, Gabor Barabas, Bastiaan R. Bloem, William L. Nyhan, Raquel de Kremer, Gary E. Eddey, Juan Puig, Stephen G. Reich

    Publicat 2006
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