Works matching IS 01418955 AND DT 2019 AND VI 42 AND IP 2

Results: 21
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    The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 353, doi. 10.1002/jimd.12045
    By:
    • Coughlin, Curtis R.;
    • Swanson, Michael A.;
    • Spector, Elaine;
    • Meeks, Naomi J. L.;
    • Kronquist, Kathryn E.;
    • Aslamy, Mezhgan;
    • Wempe, Michael F.;
    • van Karnebeek, Clara D. M.;
    • Gospe, Sidney M.;
    • Aziz, Verena G.;
    • Tsai, Becky P.;
    • Gao, Hanlin;
    • Nagy, Peter L.;
    • Hyland, Keith;
    • van Dooren, Silvy J. M.;
    • Salomons, Gajja S.;
    • Van Hove, Johan L. K.
    Publication type:
    Article
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    Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 333, doi. 10.1002/jimd.12041
    By:
    • Huemer, Martina;
    • Diodato, Daria;
    • Martinelli, Diego;
    • Olivieri, Giorgia;
    • Blom, Henk;
    • Gleich, Florian;
    • Kölker, Stefan;
    • Kožich, Viktor;
    • Morris, Andrew A.;
    • Seifert, Burkhardt;
    • Froese, D. Sean;
    • Baumgartner, Matthias R.;
    • Dionisi‐Vici, Carlo;
    • Martin, Carlos Alcalde;
    • Baethmann, Martina;
    • Ballhausen, Diana;
    • Blasco‐Alonso, Javier;
    • Boy, Nikolas;
    • Bueno, Maria;
    • Burgos Peláez, Rosa
    Publication type:
    Article
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    Allogeneic hematopoietic cell transplantation in Farber disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 286, doi. 10.1002/jimd.12043
    By:
    • Ehlert, Karoline;
    • Levade, Thierry;
    • Di Rocco, Maja;
    • Lanino, Edoardo;
    • Albert, Michael H.;
    • Führer, Monika;
    • Jarisch, Andrea;
    • Güngör, Tayfun;
    • Ayuk, Francis;
    • Vormoor, Josef
    Publication type:
    Article
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    Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 264, doi. 10.1002/jimd.12022
    By:
    • Sharkia, Rajech;
    • Wierenga, Klaas J.;
    • Kessel, Amit;
    • Azem, Abdussalam;
    • Bertini, Enrico;
    • Carrozzo, Rosalba;
    • Torraco, Alessandra;
    • Goffrini, Paola;
    • Ceccatelli Berti, Camilla;
    • McCormick, M. Eileen;
    • Plecko, Barbara;
    • Klein, Andrea;
    • Abela, Lucia;
    • Hengel, Holger;
    • Schöls, Ludger;
    • Shalev, Stavit;
    • Khayat, Morad;
    • Mahajnah, Muhammad;
    • Spiegel, Ronen
    Publication type:
    Article
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    Cardiac disease in mucopolysaccharidosis type III.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 276, doi. 10.1002/jimd.12015
    By:
    • Nijmeijer, Stephanie C. M.;
    • de Bruin‐Bon, Rianne H.A.C.M.;
    • Wijburg, Frits A.;
    • Kuipers, Irene M.
    Publication type:
    Article
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    Factor VIII and vWF deficiency in STT3A‐CDG.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 325, doi. 10.1002/jimd.12021
    By:
    • Chang, Irene J.;
    • Byers, Heather M.;
    • Ng, Bobby G.;
    • Merritt, John Lawrence;
    • Gilmore, Reid;
    • Shrimal, Shiteshu;
    • Wei, Wei;
    • Zhang, Yuan;
    • Blair, Amanda B.;
    • Freeze, Hudson H.;
    • Zhang, Bin;
    • Lam, Christina
    Publication type:
    Article
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    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. N.PAG, doi. 10.1002/jimd.12001
    Publication type:
    Article