Works matching IS 01418955 AND DT 2016 AND VI 39 AND IP 5

Results: 20
    1
    2
    3
    4
    5

    Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 661, doi. 10.1007/s10545-016-9938-9
    By:
    • Posset, Roland;
    • Garcia-Cazorla, Angeles;
    • Valayannopoulos, Vassili;
    • Teles, Elisa;
    • Dionisi-Vici, Carlo;
    • Brassier, Anaïs;
    • Burlina, Alberto;
    • Burgard, Peter;
    • Cortès-Saladelafont, Elisenda;
    • Dobbelaere, Dries;
    • Couce, Maria;
    • Sykut-Cegielska, Jolanta;
    • Häberle, Johannes;
    • Lund, Allan;
    • Chakrapani, Anupam;
    • Schiff, Manuel;
    • Walter, John;
    • Zeman, Jiri;
    • Vara, Roshni;
    • Kölker, Stefan
    Publication type:
    Article
    6

    Genetic cause and prevalence of hydroxyprolinemia.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 625, doi. 10.1007/s10545-016-9940-2
    By:
    • Staufner, Christian;
    • Haack, Tobias;
    • Feyh, Patrik;
    • Gramer, Gwendolyn;
    • Raga, Deepthi;
    • Terrile, Caterina;
    • Sauer, Sven;
    • Okun, Jürgen;
    • Fang-Hoffmann, Junmin;
    • Mayatepek, Ertan;
    • Prokisch, Holger;
    • Hoffmann, Georg;
    • Kölker, Stefan
    Publication type:
    Article
    7
    8
    9

    ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 713, doi. 10.1007/s10545-016-9945-x
    By:
    • Morava, Eva;
    • Tiemes, Vera;
    • Thiel, Christian;
    • Seta, Nathalie;
    • Lonlay, Pascale;
    • Klerk, Hans;
    • Mulder, Margot;
    • Rubio-Gozalbo, Estela;
    • Visser, Gepke;
    • Hasselt, Peter;
    • Horovitz, Dafne;
    • Souza, Carolina;
    • Schwartz, Ida;
    • Green, Andrew;
    • Al-Owain, Mohammed;
    • Uziel, Graciella;
    • Sigaudy, Sabine;
    • Chabrol, Brigitte;
    • Spronsen, Franc-Jan;
    • Steinert, Martin
    Publication type:
    Article
    10

    Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 611, doi. 10.1007/s10545-016-9947-8
    By:
    • Vianey-Saban, Christine;
    • Acquaviva, Cécile;
    • Cheillan, David;
    • Collardeau-Frachon, Sophie;
    • Guibaud, Laurent;
    • Pagan, Cécile;
    • Pettazzoni, Magali;
    • Piraud, Monique;
    • Lamazière, Antonin;
    • Froissart, Roseline
    Publication type:
    Article
    11

    International Paediatric Mitochondrial Disease Scale.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 705, doi. 10.1007/s10545-016-9948-7
    By:
    • Koene, Saskia;
    • Hendriks, Jan;
    • Dirks, Ilse;
    • Boer, Lonneke;
    • Vries, Maaike;
    • Janssen, Mirian;
    • Smuts, Izelle;
    • Fung, Cheuk-Wing;
    • Wong, Virginia;
    • Coo, I.;
    • Vill, Katharina;
    • Stendel, Claudia;
    • Klopstock, Thomas;
    • Falk, Marni;
    • McCormick, Elizabeth;
    • McFarland, Robert;
    • Groot, Imelda;
    • Smeitink, Jan
    Publication type:
    Article
    12
    13
    14

    A novel method for determining peroxisomal fatty acid β-oxidation.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 725, doi. 10.1007/s10545-016-9952-y
    By:
    • Morita, Masashi;
    • Matsumoto, Shun;
    • Okazaki, Airi;
    • Tomita, Kaito;
    • Watanabe, Shiro;
    • Kawaguchi, Kosuke;
    • Minato, Daishiro;
    • Matsuya, Yuji;
    • Shimozawa, Nobuyuki;
    • Imanaka, Tsuneo
    Publication type:
    Article
    15

    The value of plasma vitamin B profiles in early onset epileptic encephalopathies.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 733, doi. 10.1007/s10545-016-9955-8
    By:
    • Mathis, Déborah;
    • Abela, Lucia;
    • Albersen, Monique;
    • Bürer, Céline;
    • Crowther, Lisa;
    • Beese, Karin;
    • Hartmann, Hans;
    • Bok, Levinus;
    • Struys, Eduard;
    • Papuc, Sorina;
    • Rauch, Anita;
    • Hersberger, Martin;
    • Verhoeven-Duif, Nanda;
    • Plecko, Barbara
    Publication type:
    Article
    16

    Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 689, doi. 10.1007/s10545-016-9956-7
    By:
    • Dionisi-Vici, Carlo;
    • Shteyer, Eyal;
    • Niceta, Marcello;
    • Rizzo, Cristiano;
    • Pode-Shakked, Ben;
    • Chillemi, Giovanni;
    • Bruselles, Alessandro;
    • Semeraro, Michela;
    • Barel, Ortal;
    • Eyal, Eran;
    • Kol, Nitzan;
    • Haberman, Yael;
    • Lahad, Avishai;
    • Diomedi-Camassei, Francesca;
    • Marek-Yagel, Dina;
    • Rechavi, Gideon;
    • Tartaglia, Marco;
    • Anikster, Yair
    Publication type:
    Article
    17

    News and views.

    Published in:
    2016
    By:
    • Houten, Sander M.
    Publication type:
    Report
    18
    19
    20

    Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 697, doi. 10.1007/s10545-016-9932-2
    By:
    • Sentner, Christiaan;
    • Hoogeveen, Irene;
    • Weinstein, David;
    • Santer, René;
    • Murphy, Elaine;
    • McKiernan, Patrick;
    • Steuerwald, Ulrike;
    • Beauchamp, Nicholas;
    • Taybert, Joanna;
    • Laforêt, Pascal;
    • Petit, François;
    • Hubert, Aurélie;
    • Labrune, Philippe;
    • Smit, G.;
    • Derks, Terry
    Publication type:
    Article