Comparative Metabolomics in Single Ventricle Patients after Fontan Palliation: A Strong Case for a Targeted Metabolic Therapy by David Renaud, Sabine Scholl-Bürgi, Daniela Karall, Miriam Michel

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Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy by Edda Haberlandt, Taras Valovka, Tanja Janjic, Thomas Müller, Georgios Blatsios, Daniela Karall, Andreas R. Janecke

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Dietary treatment of congenital chylothorax with skimmed breast milk by Michaela Höck, Alexander Höller, Marlene Hammerl, Karina Wechselberger, Jakob Krösslhuber, Ursula Kiechl-Kohlendorfer, Sabine Scholl-Bürgi, Daniela Karall

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Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency by Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier

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Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders by Thomas Zöggeler, Katharina Stock, Monika Jörg-Streller, Johannes Spenger, Vassiliki Konstantopoulou, Miriam Hufgard-Leitner, Sabine Scholl-Bürgi, Daniela Karall

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Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders by Khaled I. Alatibi, Judith Hagenbuchner, Zeinab Wehbe, Daniela Karall, Michael J. Ausserlechner, Jerry Vockley, Ute Spiekerkoetter, Sarah C. Grünert, Sara Tucci

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Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders by Khaled I. Alatibi, Stefan Tholen, Zeinab Wehbe, Judith Hagenbuchner, Daniela Karall, Michael J. Ausserlechner, Oliver Schilling, Sarah C. Grünert, Jerry Vockley, Sara Tucci

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Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome by Martina Zandl-Lang, Thomas Züllig, Martin Trötzmüller, Yvonne Naegelin, Lucia Abela, Bernd Wilken, Sabine Scholl-Buergi, Daniela Karall, Ludwig Kappos, Harald Köfeler, Barbara Plecko

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A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria by Marion Herle, Michaela Brunner-Krainz, Daniela Karall, Bernadette Goeschl, Dorothea Möslinger, Joachim Zobel, Barbara Plecko, Sabine Scholl-Bürgi, Johannes Spenger, Saskia B. Wortmann, Martina Huemer

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Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns by Tomaž Rozmarič, Goran Mitulović, Vassiliki Konstantopoulou, Bernadette Goeschl, Martina Huemer, Barbara Plecko, Johannes Spenger, Saskia B. Wortmann, Sabine Scholl-Bürgi, Daniela Karall, Susanne Greber-Platzer, Maximilian Zeyda

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Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan Syndrome by Lisa Bartenbach, Thomas Karall, Jakob Koch, Markus Andreas Keller, Herbert Oberacher, Sabine Scholl-Bürgi, Daniela Karall, Gregor Oemer, Daniela Baumgartner, Katharina Meinel, Safwat Aly, Irena Odri-Komazec, Ralf Geiger, Miriam Michel

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Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism by Florin Bösch, Markus A. Landolt, Matthias R. Baumgartner, Susana Fernandez, Patrick Forny, Matthias Gautschi, Sarah C. Grünert, Johannes Häberle, Carolina Horvath, Daniela Karall, Danila Lampis, Marianne Rohrbach, Sabine Scholl-Bürgi, Gabor Szinnai, Martina Huemer

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Targeted metabolomic analysis of serum phospholipid and acylcarnitine in the adult Fontan patient with a dominant left ventricle by Miriam Michel, Karl-Otto Dubowy, Manuela Zlamy, Daniela Karall, Mark Gordian Adam, Andreas Entenmann, Markus Andreas Keller, Jakob Koch, Irena Odri Komazec, Ralf Geiger, Christina Salvador, Christian Niederwanger, Udo Müller, Sabine Scholl-Bürgi, Kai Thorsten Laser

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Stereotactic radiofrequency ablation of a variety of liver masses in children by Benjamin Hetzer, Georg-Friedrich Vogel, Andreas Entenmann, Michel Heil, Peter Schullian, Daniel Putzer, Bernhard Meister, Roman Crazzolara, Gabriele Kropshofer, Christina Salvador, Simon Straub, Daniela Karall, Christian Niederwanger, Gérard Cortina, Andreas Janecke, Karin Freund-Unsinn, Kathrin Maurer, Gisela Schweigmann, Georg Oberhuber, Oliver Renz, Stefan Schneeberger, Thomas Müller, Reto Bale

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Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland by Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, Beate Heinrich, Florian Gleich, Sven F. Garbade, On behalf of Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU)

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Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier by Bigna K. Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L. Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M. Lasorsa, Christine Makowski, Cyril Mignot, Ruth O’Gorman Tuura, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes A. Mayr, Holger Prokisch, Saskia B. Wortmann

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Can untreated PKU patients escape from intellectual disability? A systematic review by Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen

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