Works matching AU Roe, Charles


Results: 20
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    Triheptanoin for Glucose Transporter Type I Deficiency (G1D).

    Published in:
    JAMA Neurology, 2014, v. 71, n. 10, p. 1255, doi. 10.1001/jamaneurol.2014.1584
    By:
    • Pascual, Juan M.;
    • Peiying Liu;
    • Deng Mao;
    • Kelly, Dorothy I.;
    • Hernandez, Ana;
    • Min Sheng;
    • Good, Levi B.;
    • Qian Ma;
    • Marin-Valencia, Isaac;
    • Xuchen Zhang;
    • Park, Jason Y.;
    • Hynan, Linda S.;
    • Stavinoha, Peter;
    • Roe, Charles R.;
    • Hanzhang Lu
    Publication type:
    Article
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    Double Christmas Issue.

    Published in:
    Medical Journal of Australia, 1984, v. 140, n. 4, p. 243, doi. 10.5694/j.1326-5377.1984.tb104010.x
    By:
    • Roe, Charles
    Publication type:
    Article
    5

    Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe.

    Published in:
    Human Heredity, 1993, v. 43, n. 6, p. 342, doi. 10.1159/000154157
    By:
    • Gregersen, Niels;
    • Winter, Vibeke;
    • Curtis, Diana;
    • Deufel, Thomas;
    • Mack, Marion;
    • Hendrickx, Jan;
    • Willems, Patrick J.;
    • Ponzone, Alberto;
    • Parrella, Teresa;
    • Ponzone, Riccardo;
    • Ding, Jia-Huan;
    • Zhang, Wen;
    • Chen, Yuan Tsang;
    • Kahler, Stephen;
    • Roe, Charles R.;
    • Kølvraa, Steen;
    • Schneiderman, Katrine;
    • Andresen, Brage Storstein;
    • Bross, Peter;
    • Bolund, Lars
    Publication type:
    Article
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    Cloning and Characterization of Human Very-Long-Chain Acyl-CoA Dehydrogenase cDNA, Chromosomal Assignment of the Gene and Identification in Four Patients of Nine Different Mutations Within the VLCAD Gene.

    Published in:
    Human Molecular Genetics, 1996, v. 5, n. 4, p. 461, doi. 10.1093/hmg/5.4.461
    By:
    • Andresen, Brage Storstein;
    • Bross, Peter;
    • Vianey-Saban, Christine;
    • Divry, Priscille;
    • Zabot, Marie-Thérèse;
    • Roe, Charles R.;
    • Nada, Mohamed A.;
    • Byskov, Annette;
    • Kruse, Torben A.;
    • Neve, Søren;
    • Kristiansen, Karsten;
    • Knudsen, Inga;
    • Corydon, Morten Juhl;
    • Gregersen, Niels
    Publication type:
    Article
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    PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS.

    Published in:
    Prenatal Diagnosis, 1996, v. 16, n. 2, p. 117, doi. 10.1002/(SICI)1097-0223(199602)16:2<117::AID-PD820>3.0.CO;2-Z
    By:
    • NADA, MOHAMED A.;
    • VIANEY-SABAN, CHRISTINE;
    • ROE, CHARLES R.;
    • DING, JIA-HUAN;
    • MATHIEU, MONIQUE;
    • WAPPNER, REBECCA S.;
    • BIALER, MARTIN G.;
    • MCGLYNN, JULIE A.;
    • MANDON, GINETTE
    Publication type:
    Article
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    The Biochemistry of Reye's Syndrome.

    Published in:
    Critical Reviews in Clinical Laboratory Sciences, 1982, v. 17, n. 3, p. 247, doi. 10.3109/10408368209107038
    By:
    • Brown, Robert E.;
    • Forman, Donald T.;
    • Roe, Charles R.
    Publication type:
    Article