Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient

por Gschwind, Markus, Garcia Segarra, Nuria, Schaller, André, Bolognini, Ramona, Nuoffer, Jean‐Marc, Hourez, Raphael, Deprez, Manuel, Lhermitte, Benoit, Maeder, Philippe, Tran, Christel, Kuntzer, Thierry
Publicado 2022

Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial

por Imbard, Apolline, Toumazi, Artemis, Magréault, Sophie, Garcia-Segarra, Nuria, Schlemmer, Dimitri, Kaguelidou, Florentia, Perronneau, Isabelle, Haignere, Jérémie, de Baulny, Hélène Ogier, Kuster, Alice, Feillet, François, Alberti, Corinne, Guilmin-Crépon, Sophie, Benoist, Jean-François, Schiff, Manuel
Publicado 2022