نتائج البحث - Scholl‐Bürgi, Sabine

Bilanz ziehen – Zahlen, Daten, Fakten حسب Karall, Daniela, Scholl-Bürgi, Sabine

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Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation حسب Koessler, Miriam, Haberlandt, Edda, Karall, Daniela, Baumann, Matthias, Höller, Alexander, Scholl‐Bürgi, Sabine

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SARS‐CoV‐2 infection in a 7‐year‐old girl with pancytopenia during acute lymphocytic leukemia maintenance therapy حسب Bernar, Benoît, Kropshofer, Gabriele, Crazzolara, Roman, Kapelari, Klaus, Griesmacher, Andrea, Müller, Thomas, Scholl‐Bürgi, Sabine

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Metabolomic Analyses of Plasma Reveals New Insights into Asphyxia and Resuscitation in Pigs حسب Solberg, Rønnaug, Enot, David, Deigner, Hans-Peter, Koal, Therese, Scholl-Bürgi, Sabine, Saugstad, Ola D., Keller, Matthias

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Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation حسب Härter, Bettina, Benedicenti, Francesco, Karall, Daniela, Lausch, Ekkehard, Schweigmann, Gisela, Stanzial, Franco, Superti‐Furga, Andrea, Scholl‐Bürgi, Sabine

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

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

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Immunological Memory and Affinity Maturation After Vaccination in Patients With Propionic Acidemia حسب Zlamy, Manuela, Zöggeler, Thomas, Bachmann, Magdalena, Schirmer, Michael, Lechner, Christian, Michel, Miriam, Schimkowitsch, Alexander, Karall, Daniela, Scholl-Bürgi, Sabine

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Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy حسب Huemer, Martina, Scholl-Bürgi, Sabine, Hadaya, Karine, Kern, Ilse, Beer, Ronny, Seppi, Klaus, Fowler, Brian, Baumgartner, Matthias R, Karall, Daniela

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Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely حسب Niederwanger, Christian, Lechner, Silvia, König, Lisa, Janecke, Andreas R., Pototschnig, Claus, Häussler, Beatrice, Scholl-Bürgi, Sabine, Müller, Thomas, Heinz-Erian, Peter

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Comparative Serum Analyses Identify Cytokines and Hormones Commonly Dysregulated as Well as Implicated in Promoting Osteolysis in MMP-2-Deficient Mice and Children حسب Sarker, Hassan, Hardy, Eugenio, Haimour, Ayman, Karim, Mahmoud A., Scholl-Bürgi, Sabine, Martignetti, John A., Botto, Lorenzo D., Fernandez-Patron, Carlos

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The COVID‐19 pandemic reduced paediatric emergency department visits but did not significantly increase urgent cases حسب Beck, Nikolas, Michel, Miriam, Klingkowski, Uwe, Binder, Elisabeth, Kapelari, Klaus, Maurer, Michael, Lamina, Claudia, Müller, Thomas, Karall, Daniela, Scholl‐Bürgi, Sabine

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

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

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Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents حسب Zeltner, Nina A., Landolt, Markus A., Baumgartner, Matthias R., Lageder, Sarah, Quitmann, Julia, Sommer, Rachel, Karall, Daniela, Mühlhausen, Chris, Schlune, Andrea, Scholl-Bürgi, Sabine, Huemer, Martina

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Method comparison of HPLC-ninhydrin-photometry and UHPLC-PITC-tandem mass spectrometry for serum amino acid analyses in patients with complex congenital heart disease and controls حسب Michel, Miriam, Salvador, Christina, Wiedemair, Verena, Adam, Mark Gordian, Laser, Kai Thorsten, Dubowy, Karl-Otto, Entenmann, Andreas, Karall, Daniela, Geiger, Ralf, Zlamy, Manuela, Scholl-Bürgi, Sabine

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Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach حسب Pichler, Karin, Karall, Daniela, Kotzot, Dieter, Steichen-Gersdorf, Elisabeth, Rümmele-Waibel, Alexandra, Mittaz-Crettol, Laureane, Wanschitz, Julia, Bonafé, Luisa, Maurer, Kathrin, Superti-Furga, Andrea, Scholl-Bürgi, Sabine

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CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome حسب Bürgi, Jérôme, Kunz, Béatrice, Abrami, Laurence, Deuquet, Julie, Piersigilli, Alessandra, Scholl-Bürgi, Sabine, Lausch, Ekkehart, Unger, Sheila, Superti-Furga, Andrea, Bonaldo, Paolo, van der Goot, F. Gisou

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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 حسب Rozmarič, Tomaž, Mitulović, Goran, Konstantopoulou, Vassiliki, Goeschl, Bernadette, Huemer, Martina, Plecko, Barbara, Spenger, Johannes, Wortmann, Saskia B., Scholl-Bürgi, Sabine, Karall, Daniela, Greber-Platzer, Susanne, Zeyda, Maximilian

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Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism حسب Zeltner, Nina A., Baumgartner, Matthias R., Bondarenko, Aljona, Ensenauer, Regina, Karall, Daniela, Kölker, Stefan, Mühlhausen, Chris, Scholl-Bürgi, Sabine, Thimm, Eva, Quitmann, Julia, Burgard, Peter, Landolt, Markus A., Huemer, Martina

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