Works by Perreault, John


Results: 7
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    Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 326, doi. 10.1002/jimd.12595
    By:
    • Dang Do, An N.;
    • Chang, Irene J.;
    • Jiang, Xutian;
    • Wolfe, Lynne A.;
    • Ng, Bobby G.;
    • Lam, Christina;
    • Schnur, Rhonda E.;
    • Allis, Katrina;
    • Hansikova, Hana;
    • Ondruskova, Nina;
    • O'Connor, Shawn D.;
    • Sanchez‐Valle, Amarilis;
    • Vollo, Arve;
    • Wang, Raymond Y.;
    • Wolfenson, Zoe;
    • Perreault, John;
    • Ory, Daniel S.;
    • Freeze, Hudson H.;
    • Merritt, J. Lawrence;
    • Porter, Forbes D.
    Publication type:
    Article
    4

    Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

    Published in:
    Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 410, doi. 10.1002/mgg3.300
    By:
    • Garland, Jennifer;
    • Stephen, Joshi;
    • Class, Bradley;
    • Gruber, Angela;
    • Ciccone, Carla;
    • Poliak, Aaron;
    • Hayes, Christina P.;
    • Singhal, Vandana;
    • Slota, Christina;
    • Perreault, John;
    • Gavrilova, Ralitza;
    • Shrader, Joseph A.;
    • Chittiboina, Prashant;
    • Joe, Galen;
    • Heiss, John;
    • Gahl, William A.;
    • Huizing, Marjan;
    • Carrillo, Nuria;
    • Malicdan, May Christine V.
    Publication type:
    Article
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