Works matching DE "GLUCOSE transporter 1 deficiency syndrome"


Results: 73
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    Evaluation of non-coding variation in GLUT1 deficiency.

    Published in:
    2016
    By:
    • Liu, Yu‐Chi;
    • Lee, Jia Wei Audrey;
    • Bellows, Susannah T;
    • Damiano, John A;
    • Mullen, Saul A;
    • Berkovic, Samuel F;
    • Bahlo, Melanie;
    • Scheffer, Ingrid E;
    • Hildebrand, Michael S;
    • Ryan, Monique M.;
    • Leventer, Richard J.;
    • Freeman, Jeremy L.;
    • Mackay, Mark T.;
    • Hayman, Michael;
    • Rodriguez‐Casero, Victoria;
    • Subramanian, Gopi;
    • Webster, Richard;
    • Sadleir, Lynette G.
    Publication type:
    journal article
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    Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

    Published in:
    PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184022
    By:
    • Cappuccio, Gerarda;
    • Pinelli, Michele;
    • Alagia, Marianna;
    • Donti, Taraka;
    • Day-Salvatore, Debra-Lynn;
    • Veggiotti, Pierangelo;
    • De Giorgis, Valentina;
    • Lunghi, Simona;
    • Vari, Maria Stella;
    • Striano, Pasquale;
    • Brunetti-Pierri, Nicola;
    • Kennedy, Adam D.;
    • Elsea, Sarah H.
    Publication type:
    Article
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    Atypical Manifestations in Glut1 Deficiency Syndrome.

    Published in:
    Journal of Child Neurology, 2016, v. 31, n. 9, p. 1174, doi. 10.1177/0883073816650033
    By:
    • De Giorgis, V.;
    • Varesio, C.;
    • Baldassari, C.;
    • Piazza, E.;
    • Olivotto, S.;
    • Macasaet, J.;
    • Balottin, U.;
    • Veggiotti, P.
    Publication type:
    Article
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    Long-Term Clinical Course of Glut1 Deficiency Syndrome.

    Published in:
    Journal of Child Neurology, 2015, v. 30, n. 2, p. 160, doi. 10.1177/0883073814531822
    By:
    • Alter, Aliza S.;
    • Engelstad, Kristin;
    • Hinton, Veronica J.;
    • Montes, Jacqueline;
    • Pearson, Toni S.;
    • Akman, Cigdem I.;
    • De Vivo, Darryl C.
    Publication type:
    Article
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    The Many Faces of Glut1 Deficiency Syndrome.

    Published in:
    Journal of Child Neurology, 2014, v. 29, n. 3, p. 349, doi. 10.1177/0883073812471718
    By:
    • Tzadok, Michal;
    • Nissenkorn, Andreea;
    • Porper, Keren;
    • Matot, Israel;
    • Marcu, Shai;
    • Anikster, Yair;
    • Menascu, Shay;
    • Bercovich, Dani;
    • Zeev, Bruria Ben
    Publication type:
    Article
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