Works matching IS 01418955 AND DT 2016 AND VI 39

Results: 101
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    A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 6, p. 807, doi. 10.1007/s10545-016-9960-y
    By:
    • Wang, Fang;
    • Travins, Jeremy;
    • Lin, Zhizhong;
    • Si, Yaguang;
    • Chen, Yue;
    • Powe, Josh;
    • Murray, Stuart;
    • Zhu, Dongwei;
    • Artin, Erin;
    • Gross, Stefan;
    • Santiago, Stephanie;
    • Steadman, Mya;
    • Kernytsky, Andrew;
    • Straley, Kimberly;
    • Lu, Chenming;
    • Pop, Ana;
    • Struys, Eduard;
    • Jansen, Erwin;
    • Salomons, Gajja;
    • David, Muriel
    Publication type:
    Article
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    Cholic acid therapy in Zellweger spectrum disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 6, p. 859, doi. 10.1007/s10545-016-9962-9
    By:
    • Berendse, Kevin;
    • Klouwer, Femke;
    • Koot, Bart;
    • Kemper, Elles;
    • Ferdinandusse, Sacha;
    • Koelfat, Kiran;
    • Lenicek, Martin;
    • Schaap, Frank;
    • Waterham, Hans;
    • Vaz, Frédéric;
    • Engelen, Marc;
    • Jansen, Peter;
    • Wanders, Ronald;
    • Poll-The, Bwee
    Publication type:
    Article
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    Angiogenesis in alkaptonuria.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 6, p. 801, doi. 10.1007/s10545-016-9976-3
    By:
    • Millucci, Lia;
    • Bernardini, Giulia;
    • Marzocchi, Barbara;
    • Braconi, Daniela;
    • Geminiani, Michela;
    • Gambassi, Silvia;
    • Laschi, Marcella;
    • Frediani, Bruno;
    • Galvagni, Federico;
    • Orlandini, Maurizio;
    • Santucci, Annalisa
    Publication type:
    Article
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    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
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    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
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    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
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    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
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    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
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    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
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    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
    35

    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
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    News and views.

    Published in:
    2016
    By:
    • Houten, Sander M.
    Publication type:
    Report
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    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
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    Erythrocyte-mediated delivery of recombinant enzymes.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 4, p. 519, doi. 10.1007/s10545-016-9926-0
    By:
    • Leuzzi, Vincenzo;
    • Rossi, Luigia;
    • Gabucci, Claudia;
    • Nardecchia, Francesca;
    • Magnani, Mauro
    Publication type:
    Article
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    Riboflavin transport and metabolism in humans.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 4, p. 545, doi. 10.1007/s10545-016-9950-0
    By:
    • Barile, Maria;
    • Giancaspero, Teresa;
    • Leone, Piero;
    • Galluccio, Michele;
    • Indiveri, Cesare
    Publication type:
    Article
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