Hasil Pencarian - Francois Labarthe

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  1. 1
    Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review

    Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review oleh Yannick Moutapam-Ngamby—Adriaansen, François Maillot, François Labarthe, Bertrand Lioger

    Diterbitkan 2024-02-01
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  2. 2
    Real-time continuous glucose monitoring reduces the duration of hypoglycemia episodes: a randomized trial in very low birth weight neonates.

    Real-time continuous glucose monitoring reduces the duration of hypoglycemia episodes: a randomized trial in very low birth weight neonates. oleh Florence Uettwiller, Aude Chemin, Elisabeth Bonnemaison, Géraldine Favrais, Elie Saliba, François Labarthe

    Diterbitkan 2015-01-01
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  3. 3
    Increased acylcarnitines in infant heart failure indicate fatty acid oxidation inhibition: towards therapeutic options?

    Increased acylcarnitines in infant heart failure indicate fatty acid oxidation inhibition: towards therapeutic options? oleh Jean Issa, Pierre Lodewyckx, Hélène Blasco, Isabelle Benz‐de‐Bretagne, François Labarthe, Bruno Lefort

    Diterbitkan 2023-10-01
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  4. 4
    Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France

    Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France oleh Victor Maler, Violette Goetz, Marine Tardieu, Abderrahmane El Khalil, Jean Meidi Alili, Philippe Meunier, François Maillot, François Labarthe

    Diterbitkan 2023-06-01
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  5. 5
    Long-chain acylcarnitines regulate the hERG channel.

    Long-chain acylcarnitines regulate the hERG channel. oleh Fabio Ferro, Aude Ouillé, Truong-An Tran, Pierre Fontanaud, Patrick Bois, Dominique Babuty, François Labarthe, Jean-Yves Le Guennec

    Diterbitkan 2012-01-01
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  6. 6
    Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients

    Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients oleh Sophie Denamur, Guy Touati, Stéphane Debelleix, Léna Damaj, Magalie Barth, Marine Tardieu, Magali Gorce, Pierre Broué, Didier Lacombe, François Labarthe

    Diterbitkan 2021-02-01
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  7. 7
    Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey

    Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey oleh Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard, François Feillet, François Labarthe, Brigitte Chabrol, Marc Berger, Anne-Sophie Lapointe, Yvann Frigout, Bénédicte Héron, Gilles Chatellier, Nadia Belmatoug

    Diterbitkan 2022-02-01
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  8. 8
    Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

    Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study oleh Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier, Bénédicte Héron

    Diterbitkan 2023-07-01
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  9. 9
    Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

    Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France oleh Charles R. Lefèvre, François Labarthe, Diane Dufour, Caroline Moreau, Marie Faoucher, Paul Rollier, Jean-Baptiste Arnoux, Marine Tardieu, Léna Damaj, Claude Bendavid, Anne-Frédérique Dessein, Cécile Acquaviva-Bourdain, David Cheillan

    Diterbitkan 2023-02-01
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  10. 10
    Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

    Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy... oleh Suhrad G Banugaria, Sean N Prater, Trusha T Patel, Stephanie M Dearmey, Christie Milleson, Kathryn B Sheets, Deeksha S Bali, Catherine W Rehder, Julian A J Raiman, Raymond A Wang, Francois Labarthe, Joel Charrow, Paul Harmatz, Pranesh Chakraborty, Amy S Rosenberg, Priya S Kishnani

    Diterbitkan 2013-01-01
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  11. 11
    Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S]

    Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S] oleh René Wintjens, Dominique Bozon, Khaldia Belabbas, Félicien MBou, Jean-Philippe Girardet, Patrick Tounian, Mathilde Jolly, Franck Boccara, Ariel Cohen, Alexandra Karsenty, Béatrice Dubern, Jean-Claude Carel, Ahlam Azar-Kolakez, François Feillet, François Labarthe, Anne-Marie Colin Gorsky, Alice Horovitz, Catherine Tamarindi, Pierre Kieffer, Anne Lienhardt, Olivier Lascols, Mathilde Di Filippo, Fabienne Dufernez

    Diterbitkan 2016-03-01
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  12. 12
    Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study

    Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study oleh Abderrahim Oussalah, Elise Jeannesson-Thivisol, Céline Chéry, Pascal Perrin, Pierre Rouyer, Thomas Josse, Aline Cano, Magalie Barth, Alain Fouilhoux, Karine Mention, François Labarthe, Jean-Baptiste Arnoux, François Maillot, Catherine Lenaerts, Cécile Dumesnil, Kathy Wagner, Daniel Terral, Pierre Broué, Loic De Parscau, Claire Gay, Alice Kuster, Antoine Bédu, Gérard Besson, Delphine Lamireau, Sylvie Odent, Alice Masurel, Rosa-Maria Rodriguez-Guéant, François Feillet, Jean-Louis Guéant, Fares Namour

    Diterbitkan 2020-01-01
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  13. 13
    A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

    A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome oleh Julie Thompson Legault, Laura Strittmatter, Jessica Tardif, Rohit Sharma, Vanessa Tremblay-Vaillancourt, Chantale Aubut, Gabrielle Boucher, Clary B. Clish, Denis Cyr, Caroline Daneault, Paula J. Waters, Azadeh Aliskashani, Bruce G. Allen, Chantale Aubut, Claudine Beauchamp, Chantal Bemeur, Yan Burelle, Guy Charron, Lise Coderre, Christine Des Rosiers, Sonia Deschênes, François Labarthe, Jeannine Landry, Catherine Laprise, Geneviève Lavallée, Pierre Lavoie, Bruno Maranda, Charles Morin, Yvette Mukaneza, Tamiko Nishimura, John D. Rioux, Marie-Ève Rivard, Florin Sasarman, Eric A. Shoubridge, Jessica Tardif, Julie Thompson Legault, Nancy Tremblay, Vanessa Tremblay-Vaillancourt, Luc Vachon, Josée Villeneuve

    Diterbitkan 2015-11-01
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