Hasil Pencarian - Jean‐Baptiste Arnoux

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  1. 1
    Effects of a protein‐restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria

    Effects of a protein‐restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria oleh Birgitta Olsson, Lakshminarayan Ranganath, Jean‐Baptiste Arnoux, Richard Imrich, Anna Milan, Mattias Rudebeck

    Diterbitkan 2022-01-01
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  2. 2
    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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  3. 3
    Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

    Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families oleh Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall, Paul S. Thornton

    Diterbitkan 2022-02-01
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  4. 4
    Correction to: Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

    Correction to: Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families oleh Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall, Paul S. Thornton

    Diterbitkan 2022-05-01
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  5. 5
    Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index

    Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index oleh Harriet E. O. Cant, Iro Chatzidaki, Birgitta Olsson, Mattias Rudebeck, Jean‐Baptiste Arnoux, Richard Imrich, Lucy A. Eddowes, Lakshminarayan R. Ranganath

    Diterbitkan 2022-07-01
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  6. 6
    Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins

    Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins oleh Daniela Telehuz, Oana Plesa, Florence Bouilloud, Helene Wucher, Pascale De Lonlay, Claire-Marine Bérat, Cécile Saint-Martin, Olivier Dupuy, Jean-Baptiste Arnoux

    Diterbitkan 2024-06-01
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  7. 7
    Citrulline in the management of patients with urea cycle disorders

    Citrulline in the management of patients with urea cycle disorders oleh Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, Anaïs Brassier, Manuel Schiff, Claire-Marine Bérat, Clément Pontoizeau, Jean-François Benoist, Constant Josse, François Montestruc, Pascale de Lonlay

    Diterbitkan 2023-07-01
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  8. 8
    Long-term renal outcome in methylmalonic acidemia in adolescents and adults

    Long-term renal outcome in methylmalonic acidemia in adolescents and adults oleh Myriam Dao, Jean-Baptiste Arnoux, Frank Bienaimé, Anaïs Brassier, François Brazier, Jean-François Benoist, Clément Pontoizeau, Chris Ottolenghi, Pauline Krug, Olivia Boyer, Pascale de Lonlay, Aude Servais

    Diterbitkan 2021-05-01
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  9. 9
    Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort

    Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort oleh Camille Wicker, Célina Roda, Ariane Perry, Jean Baptiste Arnoux, Anais Brassier, Martin Castelle, Aude Servais, Jean Donadieu, Juliette Bouchereau, Bénédicte Pigneur, Philippe Labrune, Frank M. Ruemmele, Pascale de Lonlay

    Diterbitkan 2020-06-01
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  10. 10
    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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  11. 11
    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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  12. 12
    Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening

    Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening oleh Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Dalila Habes, Anaïs Brassier, Jean-Baptiste Arnoux, Juliette Bouchereau, Samia Pichard, Samira Sissaoui, Florence Lacaille, Muriel Girard, Dominique Debray, Pascale de Lonlay, Manuel Schiff

    Diterbitkan 2022-12-01
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  13. 13
    Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

    Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up oleh Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale de Lonlay, Anaïs Brassier

    Diterbitkan 2021-12-01
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  14. 14
    Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

    Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice oleh Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff

    Diterbitkan 2022-06-01
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  15. 15
    Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study

    Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre obs... oleh Jean-Meidi Alili, Marie-Pierre Berleur, Marie-Caroline Husson, Karine Mention, Manuel Schiff, Jean-Baptiste Arnoux, Anaïs Brassier, Anne-Sophie Guemman, Coraline Grisel, Sandrine Dubois, Marie-Thérèse Abi-Wardé, Christine Broissand, Aude Servais, Myriam Dao, Pascale de Lonlay

    Diterbitkan 2022-05-01
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  16. 16
    Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone

    Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone oleh Lakshminarayan R Ranganath, Milad Khedr, Jean-Baptiste Arnoux, Jozef Rovensky, Richard Jackson, Vanda Mlynarikova, Helen Bygott, Birgitta Olsson, Mattias Rudebeck, Andrea Zatkova, Richard Imrich, Olga Lukacova, Jana Sedlakova, Mária Úlehlová, Matthew Gornall, James Gallagher, Roman Stančík, Eva Vrtíková, Elizabeth Záňová, Emily Luangrath

    Diterbitkan 2022-10-01
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  17. 17
    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... oleh Caroline Tuchmann‐Durand, Eloise Thevenet, Florence Moulin, Fabrice Lesage, Juliette Bouchereau, Mehdi Oualha, Diala Khraiche, Anaïs Brassier, Camille Wicker, Stéphanie Gobin‐Limballe, Jean‐Baptiste Arnoux, Florence Lacaille, Clotilde Wicart, Bruno Coat, Joel Schlattler, Salvatore Cisternino, Sylvain Renolleau, Philippe‐Henri Secretan, Pascale De Lonlay

    Diterbitkan 2020-01-01
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  18. 18
    Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies

    Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies oleh Daniela Braconi, Michela Geminiani, Eftychia Eirini Psarelli, Daniela Giustarini, Barbara Marzocchi, Ranieri Rossi, Giulia Bernardini, Ottavia Spiga, James A. Gallagher, Kim-Hanh Le Quan Sang, Jean-Baptiste Arnoux, Richard Imrich, Mohammed S. Al-Sbou, Matthew Gornall, Richard Jackson, Lakshminarayan R. Ranganath, Annalisa Santucci

    Diterbitkan 2022-11-01
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  19. 19
    Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort

    Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort oleh Claire-Marine Bérat, Célina Roda, Anais Brassier, Juliette Bouchereau, Camille Wicker, Aude Servais, Sandrine Dubois, Murielle Assoun, Claire Belloche, Valérie Barbier, Virginie Leboeuf, François M. Petit, Pauline Gaignard, Elise Lebigot, Pierre-Jean Bérat, Clément Pontoizeau, Guy Touati, Cécile Talbotec, Florence Campeotto, Chris Ottolenghi, Jean-Baptiste Arnoux, Pascale de Lonlay pascale

    Diterbitkan 2021-03-01
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  20. 20
    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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