Found: 3

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  • Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.

    Published in:
    Annals of Neurology, 2022, v. 92, n. 2, p. 292, doi. 10.1002/ana.26423
    By:
    • Hübschmann, Oya Kuseyri;
    • Juliá‐Palacios, Natalia Alexandra;
    • Olivella, Mireia;
    • Guder, Philipp;
    • Zafeiriou, Dimitrios I.;
    • Horvath, Gabriella;
    • Kulhánek, Jan;
    • Pearson, Toni S.;
    • Kuster, Alice;
    • Cortès‐Saladelafont, Elisenda;
    • Ibáñez, Salvador;
    • García‐Jiménez, Maria Concepción;
    • Honzík, Tomáš;
    • Santer, René;
    • Jeltsch, Kathrin;
    • Garbade, Sven F.;
    • Hoffmann, Georg F.;
    • Opladen, Thomas;
    • García‐Cazorla, Ángeles
    Publication type:
    Article

  • The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 447, doi. 10.1002/jimd.12723
    By:
    • Julia‐Palacios, Natalia Alexandra;
    • Kuseyri Hübschmann, Oya;
    • Olivella, Mireia;
    • Pons, Roser;
    • Horvath, Gabriella;
    • Lücke, Thomas;
    • Fung, Cheuk‐Wing;
    • Wong, Suet‐Na;
    • Cortès‐Saladelafont, Elisenda;
    • Rovira‐Remisa, M. Mar;
    • Yıldız, Yılmaz;
    • Mercimek‐Andrews, Saadet;
    • Assmann, Birgit;
    • Stevanović, Galina;
    • Manti, Filippo;
    • Brennenstuhl, Heiko;
    • Jung‐Klawitter, Sabine;
    • Jeltsch, Kathrin;
    • Sivri, H. Serap;
    • Garbade, Sven F.
    Publication type:
    Article

  • Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1489, doi. 10.1002/jimd.12416
    By:
    • Keller, Mareike;
    • Brennenstuhl, Heiko;
    • Kuseyri Hübschmann, Oya;
    • Manti, Filippo;
    • Julia Palacios, Natalia Alexandra;
    • Friedman, Jennifer;
    • Yıldız, Yılmaz;
    • Koht, Jeanette Aimee;
    • Wong, Suet‐Na;
    • Zafeiriou, Dimitrios I.;
    • López‐Laso, Eduardo;
    • Pons, Roser;
    • Kulhánek, Jan;
    • Jeltsch, Kathrin;
    • Serrano‐Lomelin, Jesus;
    • Garbade, Sven F.;
    • Opladen, Thomas;
    • Goez, Helly;
    • Burlina, Alberto;
    • Cortès‐Saladelafont, Elisenda
    Publication type:
    Article