检索结果 - Scholl‐Bürgi, Sabine

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

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Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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) 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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