Hasil Pencarian - Claire Douillard

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  1. 1
    Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient

    Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient oleh Elodie Lebredonchel, Sandrine Duvet, Claire Douillard, François Foulquier, André Klein

    Diterbitkan 2021-11-01
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  2. 2
    Plasma Methionine and Clinical Severity in Nitrous Oxide Consumption

    Plasma Methionine and Clinical Severity in Nitrous Oxide Consumption oleh Emeline Gernez, Sylvie Deheul, Céline Tard, Marie Joncquel, Claire Douillard, Guillaume Grzych

    Diterbitkan 2022-12-01
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  3. 3
    Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia

    Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia oleh Ariane Perry, Claire Douillard, Frederic Jonca, Francois Glowacki, Xavier Leroy, Paul Caveriviere, Aurélie Hubert, Philippe Labrune

    Diterbitkan 2020-03-01
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  4. 4
    Health economic impact of patients with phenylketonuria (PKU) in France – A nationwide study of health insurance claims data

    Health economic impact of patients with phenylketonuria (PKU) in France – A nationwide study of health insurance claims data oleh Jean-Baptiste Arnoux, Claire Douillard, Francois Maillot, Stéphane Bouée, Christian Jacob, Kim Maren Schneider, Julia Theil, Sybil Charrière

    Diterbitkan 2024-12-01
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  5. 5
    A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

    A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency oleh Anne-Frédérique Dessein, Eléonore Hebbar, Joseph Vamecq, Elodie Lebredonchel, Aurore Devos, Jamal Ghoumid, Karine Mention, Dries Dobbelaere, Marie Joncquel Chevalier-Curt, Monique Fontaine, Sabine Defoort, Vassily Smirnov, Claire Douillard, Claire-Marie Dhaenens

    Diterbitkan 2022-06-01
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  6. 6
    Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study

    Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observationa... oleh Pascale de Lonlay, Roland Posset, Ulrike Mütze, Karine Mention, Delphine Lamireau, Manuel Schiff, Aude Servais, Jean Baptiste Arnoux, Anaïs Brassier, Myriam Dao, Claire Douillard, Chris Ottolenghi, Clément Pontoizeau, Federica Miotto, Jeannie Le Mouhaër

    Diterbitkan 2021-05-01
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  7. 7
    Comparison of fluid balance and hemodynamic and metabolic effects of sodium lactate versus sodium bicarbonate versus 0.9% NaCl in porcine endotoxic shock: a randomized, open-label, controlled study

    Comparison of fluid balance and hemodynamic and metabolic effects of sodium lactate versus sodium bicarbonate versus 0.9% NaCl in porcine endotoxic shock: a randomized, open-label,... oleh Thibault Duburcq, Arthur Durand, Anne-Frédérique Dessein, Joseph Vamecq, Jean-Claude Vienne, Dries Dobbelaere, Karine Mention, Claire Douillard, Patrice Maboudou, Valery Gmyr, François Pattou, Mercé Jourdain, Fabienne Tamion, Julien Poissy, Daniel Mathieu, Raphaël Favory

    Diterbitkan 2017-05-01
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  8. 8
    Acid sphingomyelinase deficiency in France: a retrospective survival study

    Acid sphingomyelinase deficiency in France: a retrospective survival study oleh Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group

    Diterbitkan 2024-08-01
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  9. 9
    Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

    Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease. oleh Wladimir Mauhin, Olivier Benveniste, Damien Amelin, Clémence Montagner, Foudil Lamari, Catherine Caillaud, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D'Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Didier Lacombe, Hélène Maillard, Olivier Lidove

    Diterbitkan 2020-01-01
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  10. 10
    Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

    Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY oleh Wladimir Mauhin, Olivier Lidove, Damien Amelin, Foudil Lamari, Catherine Caillaud, Federico Mingozzi, Gaëlle Dzangué-Tchoupou, Louiza Arouche-Delaperche, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D’Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Roseline Froissart, Didier Lacombe, Jean Marc Ziza, Eric Hachulla, Olivier Benveniste

    Diterbitkan 2018-07-01
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  11. 11
    Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

    Three-Country Snapshot of Ornithine Transcarbamylase Deficiency oleh Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen

    Diterbitkan 2022-10-01
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