Sökresultat - Kathrin Jeltsch

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  1. 1
    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 av 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

    Publicerad 2016
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  2. 2
    <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 av 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

    Publicerad 2020
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  3. 3
    The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency

    The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency av Itay Tokatly Latzer, Mariarita Bertoldi, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Paul MacMullin, Daniyal Sachee, Alexander Rotenberg, Henry H.C. Lee, Deniz Aygun, Thomas Opladen, Kathrin Jeltsch, Àngels García‐Cazorla, Jean‐Baptiste Roullet, K. Michael Gibson, Phillip L. Pearl

    Publicerad 2023
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  4. 4
    Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

    Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder av Itay Tokatly Latzer, Jean‐Baptiste Roullet, Wardiya Afshar Saber, Henry H.C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García‐Cazorla, Natalia Juliá‐Palacios, K. Michael Gibson, Mustafa Şahin, Phillip L. Pearl

    Publicerad 2024
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  5. 5
    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 av 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

    Publicerad 2017
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  6. 6
    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency av 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

    Publicerad 2024
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  7. 7
    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

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

    Publicerad 2020
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  8. 8
    Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism

    Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism av Yılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, Filippo Manti, Meryem Karaca, Ida Vanessa Döederlein Schwartz, Roser Pons, Eduardo López‐Laso, Natalia Alexandra Julia Palacios, Francesco Porta, Ivana Kavečan, Mehmet Cihan Balcı, Marisela Dy-Hollins, Suet‐Na Wong, Mari Oppebøen, Leonardo Simão Medeiros, Leila Cristina Pedroso de Paula, Ángeles García‐Cazorla, Georg F. Hoffmann, Kathrin Jeltsch, Vincenzo Leuzzi, Gülden Gökçay, Daniel Hübschmann, Inga Harting, Zeynep Alev Özön, Serap Sivri, Thomas Opladen

    Publicerad 2023
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  9. 9
    Prevalence of SARS-CoV-2 Infection in Children and Their Parents in Southwest Germany

    Prevalence of SARS-CoV-2 Infection in Children and Their Parents in Southwest Germany av Burkhard Tönshoff, Bárbara Müller, Roland Elling, Hanna Renk, Peter Meißner, Hartmut Hengel, Sven F. Garbade, Meinhard Kieser, Kathrin Jeltsch, Jürgen Grulich‐Henn, Julia Euler, Maximilian Stich, Kristine Chobanyan-Jürgens, Maria Zernickel, Aleš Janda, Lena Wölfle, Thomas Stamminger, Thomas Iftner, Tina Ganzenmueller, Christian Schmitt, Tessa Görne, Vibor Laketa, Sylvia Olberg, Anna Płaszczyca, Mirko Cortese, Ralf Bartenschlager, Constantin Pape, Roman Remme, Daniela Huzly, Marcus Panning, Sebastian Weigang, Sebastian Giese, Kevin Ciminski, Jakob Ankerhold, Georg Kochs, Martin Schwemmle, Rupert Handgretinger, Charlotte M. Niemeyer, Corinna Engel, Winfried V. Kern, Georg F. Hoffmann, Axel R. Franz, Philipp Henneke, Klaus‐Michael Debatin, Hans‐Georg Kräusslich

    Publicerad 2021
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  10. 10
    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes av Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Alghamdi, Yair Anikster, Xinhua Bao, Fahad A. Bashiri, Bruria Ben Zeev, Giovanni Bisello, Ahmet Cevdet Ceylan, Yin‐Hsiu Chien, Yew Sing Choy, Sarah H. Elsea, Lisa Flint, Àngels García‐Cazorla, Charul Gijavanekar, Emel Yılmaz Gümüş, Muddathir H. Hamad, Burcu Öztürk Hişmi, Tomáš Honzík, Oya Kuseyri Hübschmann, Wuh‐Liang Hwu, Salvador Ibáñez‐Micó, Kathrin Jeltsch, Natalia Juliá‐Palacios, Çiğdem Seher Kasapkara, Manju A. Kurian, Katarzyna Kuśmierska, Ning Liu, Lock Hock Ngu, John D. Odom, Winnie Ong, Thomas Opladen, Mari Oppebøen, Phillip L. Pearl, Belén Pérez, Roser Pons, Agnieszka Magdalena Rygiel, Tan Ee Shien, Robert Spaull, Jolanta Sykut‐Cegielska, Brahim Tabarki, Trine Tangeraas, Beat Thöny, Tessa Wassenberg, Yongxin Wen, Yusnita Yakob, Jasmine Goh Chew Yin, J Zeman, Nenad Blau

    Publicerad 2023
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  11. 11
    Pooled RT-qPCR testing for SARS-CoV-2 surveillance in schools - a cluster randomised trial

    Pooled RT-qPCR testing for SARS-CoV-2 surveillance in schools - a cluster randomised trial av Alexander Joachim, Felix Dewald, Isabelle Suárez, Michael Zemlin, Isabelle Lang, Regine Stutz, Anna Marthaler, Hans Martin Bosse, Nadine Lübke, Juliane Münch, Marie-Annett Bernard, Kathrin Jeltsch, Burkhard Tönshoff, Niklas Weidner, Hans‐Georg Kräusslich, Lena Birzele, Johannes Hübner, Patricia Schmied, Melanie Meyer-Bühn, Gibran Horemheb-Rubio, Oliver A. Cornely, Heinz Haverkamp, Gerhard A. Wiesmüller, Gerd Fätkenheuer, Barbara Hero, Rolf Kaiser, Jörg Dötsch, Jan Rybniker, Zülfü C. Cosgun, Christoph Hünseler, Jana Schönenkorb, Juliane Wurm, Florian Klein, Eva Heger, Elena Knops, Saleta Sierra-Aragón, Alina Chloé Kretschmer, Rosanne Sprute, Annelene Kossow, Martin Hellmich, Kija Shah‐Hosseini, Michael A. Weiss, Sybelle Goedicke‐Fritz, Elisabeth Kaiser, Sascha Meyer, Nastasja Seiwert, Sigrun Smola, Thorsten Pfuhl, Stefan Lohse, Anna-Kathrin Schupp, Jörg Timm, Nehle Gröne, Hellen Lesmann, Renate Bredahl, Lukas Schneble, Martin Turinsky, Christian Patry, Georg F. Hoffmann, Bárbara Müller, Kathleen Börner, Paul Schnitzler, Anke‐Mareil Heuser, Andreas Welker, Ulrich von Both, Anna Kern

    Publicerad 2021
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