Resultados de búsqueda - Mario Mastrangelo

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  1. 1
    Lennox–Gastaut Syndrome: A State of the Art Review

    Lennox–Gastaut Syndrome: A State of the Art Review por Mario Mastrangelo

    Publicado 2017
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  2. 2
    Inborn errors of creatine metabolism and epilepsy

    Inborn errors of creatine metabolism and epilepsy por Vincenzo Leuzzi, Mario Mastrangelo, Roberta Battini, Giovanni Cioni

    Publicado 2012
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  3. 3
    Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review

    Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review por Mario Mastrangelo, Valentina Gasparri, Katerina Bernardi, Silvia Foglietta, Georgia Ramantani, Francesco Pisani

    Publicado 2023
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  4. 4
    Acute ischemic stroke in childhood: a comprehensive review

    Acute ischemic stroke in childhood: a comprehensive review por Mario Mastrangelo, Laura Giordo, Giacomina Ricciardi, Manuela De Michele, Danilo Toni, Vincenzo Leuzzi

    Publicado 2021
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  5. 5
    Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

    Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype? por Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, Cristiana Artiola, André B. P. Kuilenburg, Carla Carducci, Martino Ruggieri, Rita Barone, Barbara Tavazzi, N. G. G. M. Abeling, Lida Zoetekouw, Vito Sofia, Mario Zappia, Claudia Carducci

    Publicado 2014
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  6. 6
    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 por 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

    Publicado 2016
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  7. 7
    <scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

    <scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients por Toni S. Pearson, Laura Gilbert, Thomas Opladen, Ángeles García‐Cazorla, Mario Mastrangelo, Vincenzo Leuzzi, S K Tay, Jolanta Sykut‐Cegielska, Roser Pons, Saadet Mercimek‐Andrews, Mitsuhiro Kato, Thomas Lücke, Mari Oppebøen, Manju A. Kurian, Dora Steel, Filippo Manti, Kathleen D. Meeks, Kathrin Jeltsch, Lisa Flint

    Publicado 2020
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  8. 8
    Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

    Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency por Tessa Wassenberg, Marta Molero‐Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau, Ángeles García‐Cazorla, Rafael Artuch, Roser Pons, Toni S. Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L. Pearl, Wang‐Tso Lee, Manju A. Kurian, Simon Heales, Lisa Flint, Marcel M. Verbeek, Michèl A.A.P. Willemsen, Thomas Opladen

    Publicado 2017
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  9. 9
    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies por 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

    Publicado 2020
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  10. 10
    <i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria

    <i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria por Annalisa Vetro, Hang N. Nielsen, Rikke Holm, Robert F. Hevner, Elena Parrini, Zöe Powis, Rikke S. Møller, Cristina Bellan, Alessandro Simonati, Gaëtan Lesca, Katherine L. Helbig, Elizabeth E. Palmer, Davide Mei, Elisa Ballardini, Arie van Haeringen, Steffen Syrbe, Vincenzo Leuzzi, Giovanni Cioni, Cynthia J. Curry, Gregory Costain, Margherita Santucci, Karen Chong, Grazia M.S. Mancini, Jill Clayton‐Smith, Stefania Bigoni, Ingrid E. Scheffer, William B. Dobyns, Bente Vilsen, Renzo Guerrini, Damien Sanlaville, Rani Sachdev, Ian Andrews, Francesco Mari, A Cavalli, Carmen Barba, Beatrice De Maria, Giampaolo Garani, Johannes R. Lemke, Mario Mastrangelo, Emily Tam, Elizabeth Donner, Helen M. Branson, Fabíola Paoli Monteiro, Fernando Kok, Katherine B. Howell, Stephanie L. Leech, Heather C. Mefford, Alison M. Muir

    Publicado 2021
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