Acute Respiratory Infection Unveiling CPT II Deficiency

Por Blah, Nicolas, Sudrié-Arnaud, Bénédicte, Torre, Stéphanie, Marret, Stéphane, Bekri, Soumeya, Tebani, Abdellah
Publicado no Int J Mol Sci (2018)

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria

Por Abily-Donval, Lenaig, Torre, Stéphanie, Samson, Aurélie, Sudrié-Arnaud, Bénédicte, Acquaviva, Cécile, Guerrot, Anne-Marie, Benoist, Jean-François, Marret, Stéphane, Bekri, Soumeya, Tebani, Abdellah
Publicado no Int J Mol Sci (2017)

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants

Por Gaildrat, Pascaline, Lebbah, Said, Tebani, Abdellah, Sudrié‐Arnaud, Bénédicte, Tostivint, Isabelle, Bollee, Guillaume, Tubeuf, Hélène, Charles, Thomas, Bertholet‐Thomas, Aurelia, Goldenberg, Alice, Barbey, Frederic, Martins, Alexandra, Saugier‐Veber, Pascale, Frébourg, Thierry, Knebelmann, Bertrand, Bekri, Soumeya
Publicado no Mol Genet Genomic Med (2017)