Works matching IS 01418955 AND DT 2013 AND VI 36


Results: 127
    1

    Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 1015, doi. 10.1007/s10545-013-9595-1
    By:
    • Borgwardt, L.;
    • Dali, C.;
    • Fogh, J.;
    • Månsson, J.;
    • Olsen, K.;
    • Beck, H.;
    • Nielsen, K.;
    • Nielsen, L.;
    • Olsen, S.;
    • Riise Stensland, H.;
    • Nilssen, O.;
    • Wibrand, F.;
    • Thuesen, A.;
    • Pearl, T.;
    • Haugsted, U.;
    • Saftig, P.;
    • Blanz, J.;
    • Jones, S.;
    • Tylki-Szymanska, A.;
    • Guffon-Fouiloux, N.
    Publication type:
    Article
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    Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 961, doi. 10.1007/s10545-012-9568-9
    By:
    • Veiga-da-Cunha, Maria;
    • Verhoeven-Duif, Nanda;
    • Koning, Tom;
    • Duran, Marinus;
    • Dorland, Bert;
    • Schaftingen, Emile
    Publication type:
    Article
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    Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 929, doi. 10.1007/s10545-013-9584-4
    By:
    • Karkucinska-Wieckowska, Agnieszka;
    • Trubicka, Joanna;
    • Werner, Bozena;
    • Kokoszynska, Katarzyna;
    • Pajdowska, Magdalena;
    • Pronicki, Maciej;
    • Czarnowska, Elzbieta;
    • Lebiedzinska, Magdalena;
    • Sykut-Cegielska, Jolanta;
    • Ziolkowska, Lidia;
    • Jaron, Weronika;
    • Dobrzanska, Anna;
    • Ciara, Elzbieta;
    • Wieckowski, Mariusz;
    • Pronicka, Ewa
    Publication type:
    Article
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    3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 913, doi. 10.1007/s10545-012-9579-6
    By:
    • Wortmann, Saskia;
    • Kluijtmans, Leo;
    • Rodenburg, Richard;
    • Sass, Jörn;
    • Nouws, Jessica;
    • Kaauwen, Edwin;
    • Kleefstra, Tjitske;
    • Tranebjaerg, Lisbeth;
    • Vries, Maaike;
    • Isohanni, Pirjo;
    • Walter, Katharina;
    • Alkuraya, Fowzan;
    • Smuts, Izelle;
    • Reinecke, Carolus;
    • Westhuizen, Francois;
    • Thorburn, David;
    • Smeitink, Jan;
    • Morava, Eva;
    • Wevers, Ron
    Publication type:
    Article
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    Author Index.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, p. 343, doi. 10.1007/s10545-013-9636-9
    Publication type:
    Article
    27

    ICIEM Abstracts.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, p. 91, doi. 10.1007/s10545-013-9633-z
    Publication type:
    Article
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    Clinical and biochemical features associated with BCS1L mutation.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 813, doi. 10.1007/s10545-012-9536-4
    By:
    • Al-Owain, Mohammed;
    • Colak, Dilek;
    • Albakheet, Albandary;
    • Al-Younes, Banan;
    • Al-Humaidi, Zainab;
    • Al-Sayed, Moeen;
    • Al-Hindi, Hindi;
    • Al-Sugair, Abdulaziz;
    • Al-Muhaideb, Ahmed;
    • Rahbeeni, Zuhair;
    • Al-Sehli, Abdullah;
    • Al-Fadhli, Fatima;
    • Ozand, Pinar;
    • Taylor, Robert;
    • Kaya, Namik
    Publication type:
    Article
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    The incidence of inherited porphyrias in Europe.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 849, doi. 10.1007/s10545-012-9544-4
    By:
    • Elder, George;
    • Harper, Pauline;
    • Badminton, Michael;
    • Sandberg, Sverre;
    • Deybach, Jean-Charles
    Publication type:
    Article
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    Antenatal manifestations of mitochondrial disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 805, doi. 10.1007/s10545-012-9567-x
    By:
    • Tavares, Mariana;
    • Santos, Maria;
    • Domingues, Ana;
    • Pratas, João;
    • Mendes, Cândida;
    • Simões, Marta;
    • Moura, Paulo;
    • Diogo, Luísa;
    • Grazina, Manuela
    Publication type:
    Article