检索结果 - Barbara Plecko

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  1. 1
    Lipidomics—Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases

    Lipidomics—Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases 由 Martina Zandl‐Lang, Barbara Plecko, Harald Köfeler

    出版 2023
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  2. 2
    New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency

    New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency 由 Lisa M. Crowther, Déborah Mathis, Martin Poms, Barbara Plecko

    出版 2019
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  3. 3
    Disorders affecting vitamin B<sub>6</sub> metabolism

    Disorders affecting vitamin B<sub>6</sub> metabolism 由 Matthew P. Wilson, Barbara Plecko, Philippa B. Mills, Peter T. Clayton

    出版 2019
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  4. 4
    Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation

    Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation 由 Andrea Skrabl‐Baumgartner, Barbara Plecko, Wolfgang M. Schmidt, N. König, Michael S. Hershfield, U Gruber‐Sedlmayr, Min Ae Lee‐Kirsch

    出版 2017
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  5. 5
    Neonatal Seizures—Are We there Yet?

    Neonatal Seizures—Are We there Yet? 由 Georgia Ramantani, Bernhard Schmitt, Barbara Plecko, Ronit Pressler, Gabriele Wohlrab, Katrin Klebermass‐Schrehof, Cornelia Hagmann, Francesco Pisani, Geraldine B. Boylan

    出版 2019
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  6. 6
    Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

    Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD) 由 Daniela Karall, Michaela Brunner‐Krainz, Katharina Kogelnig, Vassiliki Konstantopoulou, Esther M. Maier, Dorothea Möslinger, Barbara Plecko, Wolfgang Sperl, Barbara Volkmar, Sabine Scholl‐Bürgi

    出版 2015
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  7. 7
    Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

    Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency 由 Lucia Abela, Ronen Spiegel, Lisa M. Crowther, Andrea Klein, Katharina Steindl, Sorina Mihaela Papuc, Pascal Joset, Yoav Zehavi, Anita Rauch, Barbara Plecko, Thomas L. Simmons

    出版 2017
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  8. 8
    Multi-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients

    Multi-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients 由 Martina Zandl‐Lang, Thomas Züllig, Michael Holzer, Thomas O. Eichmann, Barbara Darnhofer, Annette Schwerin-Nagel, Joachim Zobel, Harald Haidl, Ariane Biebl, Harald Köfeler, Barbara Plecko

    出版 2025
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  9. 9
    Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

    Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome 由 Mateusz Kolanczyk, Peter Krawitz, Jochen Hecht, Anna Hupalowska, Marta Miączyńska, Katrin Marschner, Claire Schlack, Denise Emmerich, Karolina Kobus, Uwe Kornak, Peter N. Robinson, Barbara Plecko, Gernot Grangl, Sabine Uhrig, Stefan Mundlos, Denise Horn

    出版 2014
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  10. 10
    Pyridoxine responsiveness in novel mutations of the <i>PNPO</i> gene

    Pyridoxine responsiveness in novel mutations of the <i>PNPO</i> gene 由 Barbara Plecko, Karl Paul, Philippa B. Mills, Peter T. Clayton, Eduard Paschke, Oliver Maier, Oswald Hasselmann, G. Schmiedel, Simone Kanz, Mary Connolly, Nicole I. Wolf, Eduard A. Struys, Sylvia Stöckler, Lucia Abela, Doris Hofer

    出版 2014
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  11. 11
    De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy

    De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy 由 Lieve Claes, Berten Ceulemans, Dominique Audenaert, Katrien Smets, Ann Löfgren, Jurgen Del‐Favero, Sirpa Ala‐Mello, Lina Basel‐Vanagaite, Barbara Plecko, Salmo Raskin, Paul Thiry, Nicole I. Wolf, Christine Van Broeckhoven, Peter De Jonghe

    出版 2003
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  12. 12
    Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

    Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes 由 Anaïs Begemann, Mario A. Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Ruxandra Bachmann‐Gagescu, Annette Hackenberg, Lucia Abela, Barbara Plecko, Judith Kroell-Seger, Alessandra Baumer, Kazuhiro Yamakawa, Yushi Inoue, Reza Asadollahi, Heinrich Sticht, Hanns Ulrich Zeilhofer, Anita Rauch

    出版 2019
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  13. 13
    eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs

    eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs 由 Marjo S. van der Knaap, Carola G.M. van Berkel, Jochen Herms, Rudy Van Coster, Martina Baethmann, Sakkubai Naidu, Eugen Boltshauser, Michèl A.A.P. Willemsen, Barbara Plecko, Georg F. Hoffmann, Christopher G. Proud, Gert C. Scheper, Jan C. Pronk

    出版 2003
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  14. 14
    Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians

    Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians 由 Adam Strzelczyk, Gerda Zschebek, Sebastian Bauer, Christoph Baumgartner, Martin Grond, Anke Hermsen, Matthias Kieslich, Günter Krämer, Gerhard Kurlemann, Theodor W. May, Patrick May, Bernd A. Neubauer, Margarete Pfäfflin, Barbara Plecko, Philippe Ryvlin, Susanne Schubert‐Bast, Hermann Stefan, Eugen Trinka, Susanne Knake, Carola Seifart, Felix Rosenow

    出版 2016
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  15. 15
    Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

    Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency 由 Sarah Verheyen, Jasmin Blatterer, Michael R. Speicher, Gandham SriLakshmi Bhavani, Geert‐Jan Boons, Mai-Britt Ilse, Dominik Andrae, Jens Sproß, Frédéric M. Vaz, Susanne Gerit Kircher, Laura Posch-Pertl, Daniela Baumgartner, Torben Lübke, Hitesh Shah, Ali Al Kaissi, Katta M. Girisha, Barbara Plecko

    出版 2021
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  16. 16
    Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

    Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase 由 Celeste Decker, Zi‐Fan Yu, Roberto Giugliani, Ida Vanessa Döederlein Schwartz, Nathalie Guffon, Elisa Leão Teles, Clara Sá-Miranda, J. E. Wraith, Michael Beck, Laila Arash, Maurizio Scarpa, David Ketteridge, John J. Hopwood, Barbara Plecko, Robert D. Steiner, Chester B. Whitley, Paige Kaplan, Stuart J. Swiedler, Susan E. Conrad, Paul Harmatz

    出版 2010
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  17. 17
    Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

    Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials 由 Clara van Karnebeek, Hans Hartmann, Sravan Jaggumantri, Levinus A. Bok, Barb Cheng, Mary Connolly, Curtis R. Coughlin, Anibh M. Das, Sídney M. Gospe, Cornelis Jakobs, Johanna H. van der Lee, Saadet Mercimek‐Mahmutoglu, Uta Meyer, Eduard A. Struys, Graham Sinclair, Johan Van Hove, Jean-Paul Collet, Barbara Plecko, Sylvia Stöckler

    出版 2012
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  18. 18
    Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop

    Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop 由 Ute Spiekerkoetter, Martin Lindner, René Santer, Marissa Grotzke, Matthias R. Baumgartner, Hansjosef Boehles, Anibh M. Das, Claudia M. Haase, Julia B. Hennermann, Daniela Karall, H. de Klerk, Ina Knerr, Hans-Georg Koch, Barbara Plecko, Wulf Röschinger, Karl Otfried Schwab, D. Scheible, Frits A. Wijburg, Johannes Zschocke, Ertan Mayatepek, U. Wendel

    出版 2009
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  19. 19
    Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

    Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency 由 Uwe Ahting, Johannes A. Mayr, Arnaud Vanlander, Steven Hardy, Saikat Santra, Christine Makowski, Charlotte L. Alston, Franz Zimmermann, Lucia Abela, Barbara Plecko, Marianne Rohrbach, Stephanie Spranger, Sara Seneca, Boris Rolinski, Angela Hagendorff, Maja Hempel, Wolfgang Sperl, Thomas Meitinger, Joél Smet, Robert W. Taylor, Rudy Van Coster, Peter Freisinger, Holger Prokisch, Tobias B. Haack

    出版 2015
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  20. 20
    Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long‐term pulmonary function in patients treated with recombinant human <i>N</i>‐acetylgalactosamine 4‐sulfatase

    Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long‐term pulmonary function in patients treated with recombinant human <i>N</i>‐acetylgalactosamine 4‐sulfat... 由 Paul Harmatz, Zi‐Fan Yu, Roberto Giugliani, Ida Vanessa Döederlein Schwartz, Nathalie Guffon, Elisa Leão Teles, Clara Sá-Miranda, J. E. Wraith, Michael Beck, Laila Arash, Maurizio Scarpa, David Ketteridge, John J. Hopwood, Barbara Plecko, Robert D. Steiner, Chester B. Whitley, Paige Kaplan, Stuart J. Swiedler, Karen Hardy, Kenneth I. Berger, Celeste Decker

    出版 2010
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