Search Results - Daniela Karall
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Treatment of an Opposing Metabolic Situation: GLUT1‐Deficiency Syndrome and Type 1 Diabetes by Anna K. Schoenlaub, Alexander Hoeller, Sabine Hofer, Edda Haberlandt, Elisabeth Steichen‐Gersdorf, Daniela Karall, Dorottya Forster, Sabine Scholl‐Bürgi
Published in JIMD Reports (2025-03-01)Get full text
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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
Published in Cells (2021-05-01)Get full text
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Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool by Katarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, Christine Fauth, Yoshiko Murakami, Franco Laccone, Daniela Karall, Walter Bonfig, Helen Stewart, Denisa Weis
Published in Frontiers in Genetics (2025-07-01)Get full text
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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
Published in Metabolites (2022-03-01)Get full text
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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
Published in Diagnostics (2020-08-01)Get full text
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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
Published in Metabolites (2021-11-01)Get full text
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Characterization and treatment monitoring of ureagenesis disorders using stable isotopes by Gabriella Allegri, Martin Poms, Nadia Zürcher, Véronique Rüfenacht, Nicole Rimann, Déborah Mathis, Beat Thöny, Matthias Gautschi, Ralf A. Husain, Daniela Karall, Karolina Orchel-Szastak, Francesco Porta, Dominique Roland, Barbara Siri, Carlo Dionisi-Vici, René Santer, Johannes Häberle
Published in npj Metabolic Health and Disease (2025-05-01)Get full text
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