Search Results - Pascale de Lonlay

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  1. 1

    Transcultural mediation programme in a paediatric hospital in France: qualitative and quantitative study of participants’ experience and impact on hospital costs by Isabelle Durand-Zaleski, Jonathan Lachal, Mélanie Escaich, Serge Bouznah, Pascale De Lonlay, Pierre Canoui, Marie-Rose Moro, Clémence Rousselle

    Published in BMJ Open (2019-11-01)
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  2. 2

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

    Published in Frontiers in Endocrinology (2024-06-01)
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  3. 3

    Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients by Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava

    Published in JIMD Reports (2020-01-01)
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  4. 4

    Acute rhabdomyolysis by Pascale de Lonlay, Asmaa Mamoune, Yamina Hamel, Michel Bahuau, Sabrina Vergnaud, Moniqu Piraud, Lætitia Lallemand, Marie-Ange Nguyen More, Mai Thao Vio, Norma Beatriz Romero

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  5. 5

    Citrulline in the management of patients with urea cycle disorders by 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

    Published in Orphanet Journal of Rare Diseases (2023-07-01)
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  6. 6

    Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy by Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Benedetta Ruzzenente, Metodi D. Metodiev

    Published in Life (2023-02-01)
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  7. 7

    Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era by Mai Thao Bui, Gorka Fernández-Eulate, Teresinha Evangelista, Emmanuelle Lacène, Guy Brochier, Clémence Labasse, Angéline Madelaine, Anaïs Chanut, Maud Beuvin, Favienne Borsato-Levy, Valérie Biancalana, Giulia Barcia, Pascale De Lonlay, Jocelyn Laporte, Johann Böhm, Norma Beatriz Romero

    Published in Acta Neuropathologica Communications (2024-12-01)
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  8. 8

    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... by 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

    Published in Orphanet Journal of Rare Diseases (2022-05-01)
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  9. 9

    A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation by Alexandre Kauskot, Tiffany Pascreau, Frédéric Adam, Arnaud Bruneel, Christelle Reperant, Marc-Damien Lourenco-Rodrigues, Jean-Philippe Rosa, Rachel Petermann, Hélène Maurey, Claire Auditeau, Dominique Lasne, Cécile V. Denis, Marijke Bryckaert, Pascale de Lonlay, Cécile Lavenu-Bombled, Judith Melki, Delphine Borgel

    Published in Haematologica (2018-12-01)
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  10. 10

    TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning by Hortense de Calbiac, Sebastian Montealegre, Marjolène Straube, Solène Renault, Hugo Debruge, Loïc Chentout, Sorana Ciura, Apolline Imbard, Edouard Le Guillou, Anca Marian, Nicolas Goudin, Laure Caccavelli, Sylvie Fabrega, Arnaud Hubas, Peter van Endert, Nicolas Dupont, Julien Diana, Edor Kabashi, Pascale de Lonlay

    Published in Autophagy Reports (2024-12-01)
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  11. 11

    Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study by Iphigénie Cavadias, Magali Viaud, Marie Falampin, Alaa Cheikhelard, Karinne Gueniche, Chloé Ouallouche, Dinane Samara-Boustani, Damien Bonnet, Nadia Bahi-Buisson, Pierre Quartier-dit-Maire, Smaïl Hadj-Rabia, Laurence Heidet, Slimane Allali, Pascale de Lonlay, Jeanne Amiel, Rima Nabbout, Despina Moshous, Valérie Cormier-Daire, Arnaud Picard, Isabelle Desguerre, Isabelle Sermet-Gaudelus, Graziella Pinto, Dominique Bremond-Gignac, Frank Ruemmele, Muriel Girard, Véronique Abadie, Syril James, Annie Harroche, Michel Polak, Sabrina Da Costa

    Published in Orphanet Journal of Rare Diseases (2025-03-01)
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