Works matching IS 01418955 AND DT 2015 AND VI 38 AND IP 5


Results: 26
    1

    Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

    Published in:
    Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 957, doi. 10.1007/s10545-014-9803-7
    By:
    • Huemer, M.;
    • Bürer, C.;
    • Ješina, P.;
    • Kožich, V.;
    • Landolt, M.;
    • Suormala, T.;
    • Fowler, B.;
    • Augoustides- Savvopoulou, P.;
    • Blair, E.;
    • Brennerova, K.;
    • Broomfield, A.;
    • Meirleir, L.;
    • Gökcay, G.;
    • Hennermann, J.;
    • Jardine, P.;
    • Koch, J.;
    • Lorenzl, S.;
    • Lotz-Havla, A.;
    • Noss, J.;
    • Parini, R.
    Publication type:
    Article
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    The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.

    Published in:
    Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 969, doi. 10.1007/s10545-014-9806-4
    By:
    • Caterino, Marianna;
    • Pastore, Anna;
    • Strozziero, Maria;
    • Giovamberardino, Gianna;
    • Imperlini, Esther;
    • Scolamiero, Emanuela;
    • Ingenito, Laura;
    • Boenzi, Sara;
    • Ceravolo, Ferdinando;
    • Martinelli, Diego;
    • Dionisi-Vici, Carlo;
    • Ruoppolo, Margherita
    Publication type:
    Article
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    Bone demineralisation in a large cohort of Wilson disease patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 949, doi. 10.1007/s10545-015-9815-y
    By:
    • Weiss, Karl;
    • Moortele, Mart;
    • Gotthardt, Daniel;
    • Pfeiffenberger, Jan;
    • Seeßle, Jessica;
    • Ullrich, Elena;
    • Gielen, Evelien;
    • Borghs, Herman;
    • Adriaens, Els;
    • Stremmel, Wolfgang;
    • Meersseman, Wouter;
    • Boonen, Steven;
    • Cassiman, David
    Publication type:
    Article
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    Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

    Published in:
    Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 905, doi. 10.1007/s10545-015-9836-6
    By:
    • Huemer, Martina;
    • Karall, Daniela;
    • Schossig, Anna;
    • Abdenur, Jose;
    • Jasmi, Fatma;
    • Biagosch, Caroline;
    • Distelmaier, Felix;
    • Freisinger, Peter;
    • Graham, Brett;
    • Haack, Tobias;
    • Hauser, Natalie;
    • Hertecant, Jozef;
    • Ebrahimi-Fakhari, Darius;
    • Konstantopoulou, Vassiliki;
    • Leydiker, Karen;
    • Lourenco, Charles;
    • Scholl-Bürgi, Sabine;
    • Wilichowski, Ekkehard;
    • Wolf, Nicole;
    • Wortmann, Saskia
    Publication type:
    Article
    20

    Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

    Published in:
    Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 873, doi. 10.1007/s10545-015-9841-9
    By:
    • Hagen, Jacob;
    • Brinke, Heleen;
    • Wanders, Ronald;
    • Knegt, Alida;
    • Oussoren, Esmee;
    • Hoogeboom, A.;
    • Ruijter, George;
    • Becker, Daniel;
    • Schwab, Karl;
    • Franke, Ingo;
    • Duran, Marinus;
    • Waterham, Hans;
    • Sass, Jörn;
    • Houten, Sander
    Publication type:
    Article
    21

    Amyloidosis in alkaptonuria.

    Published in:
    Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 797, doi. 10.1007/s10545-015-9842-8
    By:
    • Millucci, Lia;
    • Braconi, Daniela;
    • Bernardini, Giulia;
    • Lupetti, Pietro;
    • Rovensky, Josef;
    • Ranganath, Lakshminaryan;
    • Santucci, Annalisa
    Publication type:
    Article
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