Found: 4

Select item for more details and to access through your institution.

  • Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 848, doi. 10.1002/jimd.12504
    By:
    • Yverneau, Mathilde;
    • Leroux, Stéphanie;
    • Imbard, Apolline;
    • Gleich, Florian;
    • Arion, Alina;
    • Moreau, Caroline;
    • Nassogne, Marie‐Cécile;
    • Szymanowski, Marie;
    • Tardieu, Marine;
    • Touati, Guy;
    • Bueno, María;
    • Chapman, Kimberly A.;
    • Chien, Yin‐Hsiu;
    • Huemer, Martina;
    • Ješina, Pavel;
    • Janssen, Mirian C. H.;
    • Kölker, Stefan;
    • Kožich, Viktor;
    • Lavigne, Christian;
    • Lund, Allan Meldgaard
    Publication type:
    Article

  • Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 215, doi. 10.1002/jimd.12452
    By:
    • Gorce, Magali;
    • Lebigot, Elise;
    • Arion, Alina;
    • Brassier, Anaïs;
    • Cano, Aline;
    • De Lonlay, Pascale;
    • Feillet, François;
    • Gay, Claire;
    • Labarthe, François;
    • Nassogne, Marie‐Cécile;
    • Roche, Sandrine;
    • Roubertie, Agathe;
    • Sacaze, Elise;
    • Touati, Guy;
    • Broué, Pierre
    Publication type:
    Article

  • Detection of human bocavirus in hospitalised children.

    Published in:
    Journal of Paediatrics & Child Health, 2009, v. 45, n. 3, p. 149, doi. 10.1111/j.1440-1754.2008.01442.x
    By:
    • Dina, Julia;
    • Vabret, Astrid;
    • Gouarin, Stephanie;
    • Petitjean, Joelle;
    • Lecoq, Julie;
    • Brouard, Jacques;
    • Arion, Alina;
    • Lafay-Delaire, Françoise;
    • Freymuth, François
    Publication type:
    Article

  • Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.815
    By:
    • Snanoudj, Sarah;
    • Mordel, Patrick;
    • Dupas, Quentin;
    • Schanen, Cécile;
    • Arion, Alina;
    • Gérard, Marion;
    • Read, Marie‐Hélène;
    • Nait Rabah, Djamel;
    • Goux, Didier;
    • Chapon, Françoise;
    • Jokic, Mickael;
    • Allouche, Stéphane
    Publication type:
    Article