Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: (1)H NMR spectroscopy and genetic testing

por Bouchemal, Nadia, Ouss, Lisa, Brassier, Anaïs, Barbier, Valérie, Gobin, Stéphanie, Hubert, Laurence, de Lonlay, Pascale, Le Moyec, Laurence
Publicado 2019

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

por Brassier, Anais, Gobin, Stephanie, Arnoux, Jean Baptiste, Valayannopoulos, Vassili, Habarou, Florence, Kossorotoff, Manoelle, Servais, Aude, Barbier, Valerie, Dubois, Sandrine, Touati, Guy, Barouki, Robert, Lesage, Fabrice, Dupic, Laurent, Bonnefont, Jean Paul, Ottolenghi, Chris, De Lonlay, Pascale
Publicado 2015

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation

por Montealegre, Sebastian, Lebigot, Elise, Debruge, Hugo, Romero, Norma, Héron, Bénédicte, Gaignard, Pauline, Legendre, Antoine, Imbard, Apolline, Gobin, Stéphanie, Lacène, Emmanuelle, Nusbaum, Patrick, Hubas, Arnaud, Desguerre, Isabelle, Servais, Aude, Laforêt, Pascal, van Endert, Peter, Authier, François Jérome, Gitiaux, Cyril, de Lonlay, Pascale
Publicado 2022

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

por Mauhin, Wladimir, Habarou, Florence, Gobin, Stéphanie, Servais, Aude, Brassier, Anaïs, Grisel, Coraline, Roda, Célina, Pinto, Graziella, Moshous, Despina, Ghalim, Fahd, Krug, Pauline, Deltour, Nelly, Pontoizeau, Clément, Dubois, Sandrine, Assoun, Murielle, Galmiche, Louise, Bonnefont, Jean-Paul, Ottolenghi, Chris, de Blic, Jacques, Arnoux, Jean-Baptiste, de Lonlay, Pascale
Publicado 2017