AICA-Ribosiduria: A Novel, Neurologically Devastating Inborn Error of Purine Biosynthesis Caused by Mutation of ATIC

Por Marie, Sandrine, Heron, Bénédicte, Bitoun, Pierre, Timmerman, Thérèse, Van den Berghe, Georges, Vincent, Marie-Françoise
Publicado em 2004

Aminopeptidase B, a glucagon-processing enzyme: site directed mutagenesis of the Zn(2+)-binding motif and molecular modelling

Por Pham, Viet-Laï, Cadel, Marie-Sandrine, Gouzy-Darmon, Cécile, Hanquez, Chantal, Beinfeld, Margery C, Nicolas, Pierre, Etchebest, Catherine, Foulon, Thierry
Publicado em 2007

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

Por Soliman, Neveen A., Elmonem, Mohamed A., van den Heuvel, Lambertus, Abdel Hamid, Rehab H., Gamal, Mohamed, Bongaers, Inge, Marie, Sandrine, Levtchenko, Elena
Publicado em 2014

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Por Gitiaux, Cyril, Ceballos-Picot, Irène, Marie, Sandrine, Valayannopoulos, Vassili, Rio, Marlène, Verrieres, Séverine, Benoist, Jean François, Vincent, Marie Françoise, Desguerre, Isabelle, Bahi-Buisson, Nadia
Publicado em 2009

A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair

Por Rzem, Rim, Achouri, Younes, Marbaix, Etienne, Schakman, Olivier, Wiame, Elsa, Marie, Sandrine, Gailly, Philippe, Vincent, Marie-Françoise, Veiga-da-Cunha, Maria, Van Schaftingen, Emile
Publicado no PLoS One (2015)

Novel Proton MR Spectroscopy Findings in Adenylosuccinate Lyase Deficiency

Por Zulfiqar, Maria, Lin, Doris D.M., Van der Graaf, Marinette, Barker, Peter B., Fahrner, Jill A., Marie, Sandrine, Morava, Eva, De Boer, Lonneke, Willemsen, Michel A.A.P, Vining, Eileen, Horská, Alena, Engelke, Udo, Wevers, Ron A., Maegawa, Gustavo H.B.
Publicado no J Magn Reson Imaging (2012)

Neonatal Thyroid-Stimulating Hormone Concentrations in Belgium: A Useful Indicator for Detecting Mild Iodine Deficiency?

Por Vandevijvere, Stefanie, Coucke, Wim, Vanderpas, Jean, Trumpff, Caroline, Fauvart, Maarten, Meulemans, Ann, Marie, Sandrine, Vincent, Marie-Françoise, Schoos, Roland, Boemer, François, Vanwynsberghe, Timothy, Philips, Eddy, Eyskens, François, Wuyts, Brigitte, Selimaj, Valbona, Van Overmeire, Bart, Kirkpatrick, Christine, Van Oyen, Herman, Moreno-Reyes, Rodrigo
Publicado em 2012