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Works matching AU Arion, Alina

Results: 4

1

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

2

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

3

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

4

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