Hasil Pencarian - Luc Regal

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  1. 1
    Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

    Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly oleh Katrien Stouffs, Katrien Stouffs, Patrick Verloo, Stefanie Brock, Stefanie Brock, Luc Régal, Diane Beysen, Berten Ceulemans, Anna C. Jansen, Anna C. Jansen, Marije E.C. Meuwissen, Marije E.C. Meuwissen

    Diterbitkan 2020-02-01
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  2. 2
    Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

    Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses oleh Emmanuel Scalais, Elise Osterheld, Christine Geron, Charlotte Pierron, Ronit Chafai, Vincent Schlesser, Patricia Borde, Luc Regal, Hilde Laeremans, Koen L. I. vanGassen, L. Bert van denHeuvel, Linda De Meirleir

    Diterbitkan 2019-09-01
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  3. 3
    Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function

    Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function oleh Karen Rosier, Molly T. McDevitt, Joél Smet, Brendan J. Floyd, Maxime Verschoore, Maria J. Marcaida, Craig A. Bingman, Irma Lemmens, Matteo Dal Peraro, Jan Tavernier, Benjamin F. Cravatt, Natalia V. Gounko, Katlijn Vints, Yenthe Monnens, Kritika Bhalla, Laetitia Aerts, Edrees H. Rashan, Arnaud V. Vanlander, Rudy Van Coster, Luc Régal, David J. Pagliarini, John W.M. Creemers

    Diterbitkan 2021-12-01
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  4. 4
    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies oleh Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)

    Diterbitkan 2020-05-01
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  5. 5
    Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies oleh Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)

    Diterbitkan 2020-08-01
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