Works matching IS 03645134 AND DT 2000 AND VI 47 AND IP 6


Results: 36
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    Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.

    Published in:
    2000
    By:
    • Nishino, Ichizo;
    • Spinazzola, Antonella;
    • Papadimitriou, Alexandros;
    • Hammans, Simon;
    • Steiner, Israel;
    • Hahn, Cecil D.;
    • Connolly, Anne M.;
    • Verloes, Alain;
    • Guimarães, João;
    • Maillard, Ivan;
    • Hamano, Hitoshi;
    • Donati, M. Alice;
    • Semrad, Carol E.;
    • Russell, James A.;
    • Andreu, Antonio L.;
    • Hadjigeorgiou, Giorgos M.;
    • Vu, Tuan H.;
    • Tadesse, Saba;
    • Nygaard, Torbjoern G.;
    • Nonaka, Ikuya
    Publication type:
    journal article
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    News and comment.

    Published in:
    Annals of Neurology, 2000, v. 47, n. 6, p. 23A, doi. 10.1002/1531-8249(200006)47:6<::AID-ANA33>3.0.CO;2-M
    Publication type:
    Article
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    Reply.

    Published in:
    Annals of Neurology, 2000, v. 47, n. 6, p. 839, doi. 10.1002/1531-8249(200006)47:6<839::AID-ANA26>3.0.CO;2-V
    By:
    • Sappey-Marinier, Dominique;
    • Broussolle, Emmanuel;
    • Vighetto, Alain
    Publication type:
    Article
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    Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

    Published in:
    Annals of Neurology, 2000, v. 47, n. 6, p. 776, doi. 10.1002/1531-8249(200006)47:6<776::AID-ANA10>3.0.CO;2-5
    By:
    • Grünewald, S.;
    • Imbach, T.;
    • Huijben, K.;
    • Rubio-Gozalbo, M. E.;
    • Verrips, A.;
    • De Klerk, J. B. C.;
    • Stroink, H.;
    • De Rijk-Van Andel, J. F.;
    • Van Hove, J. L. K.;
    • Wendel, U.;
    • Matthijs, G.;
    • Hennet, T.;
    • Jaeken, J.;
    • Wevers, R. A.
    Publication type:
    Article
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    Topiramate and essential tremor.

    Published in:
    2000
    By:
    • Gálvez-Jiménez, Néstor;
    • Hargreave, Melanie;
    • Gálvez-Jiménez, N;
    • Hargreave, M
    Publication type:
    clinical trial
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    Locus for febrile seizures.

    Published in:
    2000
    By:
    • Scheffer, Ingrid E.;
    • Wallace, Robyn H.;
    • Mulley, John C.;
    • Berkovic, Samuel F.;
    • Scheffer, I E;
    • Wallace, R H;
    • Mulley, J C;
    • Berkovic, S F
    Publication type:
    commentary
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    Hemorrhagic complications in vein of Galen malformations.

    Published in:
    2000
    By:
    • Meyers, Philip M.;
    • Halbach, Van V.;
    • Phatouros, Constantine P.;
    • Dowd, Christopher F.;
    • Malek, Adel M.;
    • Lempert, Todd E.;
    • Lefler, James E.;
    • Higashida, Randall T.;
    • Meyers, P M;
    • Halbach, V V;
    • Phatouros, C P;
    • Dowd, C F;
    • Malek, A M;
    • Lempert, T E;
    • Lefler, J E;
    • Higashida, R T
    Publication type:
    journal article
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