Works matching IS 01418955 AND DT 2014 AND VI 37

Results: 118
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    Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study.

    Published in:
    Journal of Inherited Metabolic Disease, 2014, v. 37, n. 6, p. 979, doi. 10.1007/s10545-014-9715-6
    By:
    • Hendriksz, Christian;
    • Burton, Barbara;
    • Fleming, Thomas;
    • Harmatz, Paul;
    • Hughes, Derralynn;
    • Jones, Simon;
    • Lin, Shuan-Pei;
    • Mengel, Eugen;
    • Scarpa, Maurizio;
    • Valayannopoulos, Vassili;
    • Giugliani, Roberto;
    • Slasor, Peter;
    • Lounsbury, Debra;
    • Dummer, Wolfgang
    Publication type:
    Article
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    SSIEM 2014 Annual Symposium.

    Published in:
    Journal of Inherited Metabolic Disease, 2014, v. 37, p. 1, doi. 10.1007/s10545-014-9738-z
    Publication type:
    Article
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    Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation.

    Published in:
    2014
    By:
    • Nakajima, Yoko;
    • Meijer, Judith;
    • Dobritzsch, Doreen;
    • Ito, Tetsuya;
    • Meinsma, Rutger;
    • Abeling, Nico;
    • Roelofsen, Jeroen;
    • Zoetekouw, Lida;
    • Watanabe, Yoriko;
    • Tashiro, Kyoko;
    • Lee, Tomoko;
    • Takeshima, Yasuhiro;
    • Mitsubuchi, Hiroshi;
    • Yoneyama, Akira;
    • Ohta, Kazuhide;
    • Eto, Kaoru;
    • Saito, Kayoko;
    • Kuhara, Tomiko;
    • Kuilenburg, André
    Publication type:
    Erratum
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    Skin manifestations in CDG.

    Published in:
    Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 699, doi. 10.1007/s10545-014-9678-7
    By:
    • Rymen, D.;
    • Jaeken, J.
    Publication type:
    Article
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    Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation.

    Published in:
    Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 801, doi. 10.1007/s10545-014-9682-y
    By:
    • Nakajima, Yoko;
    • Meijer, Judith;
    • Dobritzsch, Doreen;
    • Ito, Tetsuya;
    • Meinsma, Rutger;
    • Abeling, Nico;
    • Roelofsen, Jeroen;
    • Zoetekouw, Lida;
    • Watanabe, Yoriko;
    • Tashiro, Kyoko;
    • Lee, Tomoko;
    • Takeshima, Yasuhiro;
    • Mitsubuchi, Hiroshi;
    • Yoneyama, Akira;
    • Ohta, Kazuhide;
    • Eto, Kaoru;
    • Saito, Kayoko;
    • Kuhara, Tomiko;
    • Kuilenburg, André
    Publication type:
    Article
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    Clinical presentation and outcome in a series of 88 patients with the cblC defect.

    Published in:
    Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 831, doi. 10.1007/s10545-014-9687-6
    By:
    • Fischer, Sabine;
    • Huemer, Martina;
    • Baumgartner, Matthias;
    • Deodato, Federica;
    • Ballhausen, Diana;
    • Boneh, Avihu;
    • Burlina, Alberto;
    • Cerone, Roberto;
    • Garcia, Paula;
    • Gökçay, Gülden;
    • Grünewald, Stephanie;
    • Häberle, Johannes;
    • Jaeken, Jaak;
    • Ketteridge, David;
    • Lindner, Martin;
    • Mandel, Hanna;
    • Martinelli, Diego;
    • Martins, Esmeralda;
    • Schwab, Karl;
    • Gruenert, Sarah
    Publication type:
    Article
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    Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.

    Published in:
    Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 851, doi. 10.1007/s10545-014-9695-6
    By:
    • Dai, Dongling;
    • Mills, Philippa;
    • Footitt, Emma;
    • Gissen, Paul;
    • McClean, Patricia;
    • Stahlschmidt, Jens;
    • Coupry, Isabelle;
    • Lavie, Julie;
    • Mochel, Fanny;
    • Goizet, Cyril;
    • Mizuochi, Tatsuki;
    • Kimura, Akihiko;
    • Nittono, Hiroshi;
    • Schwarz, Karin;
    • Crick, Peter;
    • Wang, Yuqin;
    • Griffiths, William;
    • Clayton, Peter
    Publication type:
    Article
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