A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern

by Gauthier, Nicolas, Wu, Jiang Wei, Wang, Shu Pei, Allard, Pierre, Mamer, Orval A., Sweetman, Lawrence, Moser, Ann B., Kratz, Lisa, Alvarez, Fernando, Robitaille, Yves, Lépine, François, Mitchell, Grant A.
Published 2013

Positive Regulation of Insulin Signaling by Neuraminidase 1

by Dridi, Larbi, Seyrantepe, Volkan, Fougerat, Anne, Pan, Xuefang, Bonneil, Éric, Thibault, Pierre, Moreau, Allain, Mitchell, Grant A., Heveker, Nikolaus, Cairo, Christopher W., Issad, Tarik, Hinek, Alexander, Pshezhetsky, Alexey V.
Published 2013

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

by Gauthier, Julie, Ouled Amar Bencheikh, Bouchra, Hamdan, Fadi F, Harrison, Steven M, Baker, Linda A, Couture, Françoise, Thiffault, Isabelle, Ouazzani, Reda, Samuels, Mark E, Mitchell, Grant A, Rouleau, Guy A, Michaud, Jacques L, Soucy, Jean- François
Published 2015

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

by Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S
Published 2016