Search Results - Gobin‐Limballe, Stéphanie

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  1. 1
    Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error

    Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a med... by Tuchmann‐Durand, Caroline, Thevenet, Eloise, Moulin, Florence, Lesage, Fabrice, Bouchereau, Juliette, Oualha, Mehdi, Khraiche, Diala, Brassier, Anaïs, Wicker, Camille, Gobin‐Limballe, Stéphanie, Arnoux, Jean‐Baptiste, Lacaille, Florence, Wicart, Clotilde, Coat, Bruno, Schlattler, Joel, Cisternino, Salvatore, Renolleau, Sylvain, Secretan, Philippe‐Henri, De Lonlay, Pascale

    Published in JIMD reports
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  2. 2
    OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

    OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort by Gobin‐Limballe, Stephanie, Ottolenghi, Chris, Reyal, Fabien, Arnoux, Jean‐Baptiste, Magen, Maryse, Simon, Marie, Brassier, Anaïs, Jabot‐Hanin, Fabienne, Lonlay, Pascale De, Pontoizeau, Clement, Guirat, Manel, Rio, Marlene, Gesny, Roselyne, Gigarel, Nadine, Royer, Ghislaine, Steffann, Julie, Munnich, Arnold, Bonnefont, Jean‐Paul

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  3. 3
    Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches

    Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches by Gobin-Limballe, Stéphanie, McAndrew, Ryan P., Djouadi, Fatima, Kim, Jung-Ja, Bastin, Jean

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  4. 4
    Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability

    Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability by Barcia, Giulia, Chemaly, Nicole, Kuchenbuch, Mathieu, Eisermann, Monika, Gobin-Limballe, Stéphanie, Ciorna, Viorica, Macaya, Alfons, Lambert, Laetitia, Dubois, Fanny, Doummar, Diane, Billette de Villemeur, Thierry, Villeneuve, Nathalie, Barthez, Marie-Anne, Nava, Caroline, Boddaert, Nathalie, Kaminska, Anna, Bahi-Buisson, Nadia, Milh, Mathieu, Auvin, Stéphane, Bonnefont, Jean-Paul, Nabbout, Rima

    Published in Neurology. Genetics
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  5. 5
    Rhabdomyolyses en rapport avec des déficits de la bêta-oxydation. Apport du séquençage haut débit sur panels dédiés

    Rhabdomyolyses en rapport avec des déficits de la bêta-oxydation. Apport du séquençage haut débit sur panels dédiés by Vledouts, Serafima, Brisset, Marion, Acquaviva-Bourdain, Cécile, Gobin-Limballe, Stéphanie, Bonnefont, Jean-Paul, Nicolas, Guillaume, Laforêt, Pascal

    Published in Revue neurologique
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  6. 6
    Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error

    Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a med... by Tuchmann-Durand, Caroline, Thevenet, Eloise, Moulin, Florence, Lesage, Fabrice, Bouchereau, Juliette, Oualha, Mehdi, Khraiche, Diala, Brassier, Anaïs, Wicker, Camille, Gobin-Limballe, Stéphanie, Arnoux, Jean-Baptiste, Lacaille, Florence, Wicart, Clotilde, Coat, Bruno, Schlattler, Joel, Cisternino, Salvatore, Renolleau, Sylvain, Secretan, Philippe-Henri, De Lonlay, Pascale

    Published in JIMD reports
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