檢索結果 - Elisenda Cortès‐Saladelafont

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  1. 1
    Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse

    Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse 由 Elisenda Cortès‐Saladelafont, Julian Fernández-Martín, Saida Ortolano

    出版 2023
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  2. 2
    The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

    The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders 由 Thomas Opladen, Elisenda Cortès‐Saladelafont, Mario Mastrangelo, Gabriella Horváth, Roser Pons, Eduardo López‐Laso, Joaquín Alejandro Fernández‐Ramos, Tomáš Honzík, Toni S. Pearson, Jennifer Friedman, Sabine Scholl‐Bürgi, Tessa Wassenberg, Sabine Jung‐Klawitter, Oya Kuseyri Hübschmann, Kathrin Jeltsch, Manju A. Kurian, Àngels García‐Cazorla

    出版 2016
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  3. 3
    The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

    The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective 由 Mohamed A. Elmonem, Amaya Bélanger-Quintana, Andrea Bordugo, Ritma Boruah, Elisenda Cortès‐Saladelafont, Mounika Endrakanti, Pilar Giraldo, Sarah C. Grünert, Neerja Gupta, Madhulika Kabra, Ina Knerr, Johannes Krämer, Alice Kuster, Elena Levtchenko, Lock Hock Ngu, M. Mar Rovira‐Remisa, Jörn Oliver Sass, Jolanta Sykut‐Cegielska, Albina Tummolo, Lambertus P. van den Heuvel

    出版 2020
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  4. 4
    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency 由 Natalia Juliá‐Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Horváth, Thomas Lücke, Cheuk Wing Fung, Suet‐Na Wong, Elisenda Cortès‐Saladelafont, M. Mar Rovira‐Remisa, Yılmaz Yıldız, Saadet Mercimek‐Andrews, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung‐Klawitter, Kathrin Jeltsch, Serap Sivri, Sven F. Garbade, Àngels García‐Cazorla, Thomas Opladen

    出版 2024
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  5. 5
    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies 由 Thomas Opladen, Eduardo López‐Laso, Elisenda Cortès‐Saladelafont, Toni S. Pearson, Serap Sivri, Yılmaz Yıldız, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Ángeles García‐Cazorla, Tomáš Honzík, Roser Pons, Luc Régal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horváth, Beat Thöny, Sabine Scholl‐Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann

    出版 2020
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