Bilanz ziehen – Zahlen, Daten, Fakten

por Karall, Daniela, Scholl-Bürgi, Sabine
Publicado 2020

Comparative Metabolomics in Single Ventricle Patients after Fontan Palliation: A Strong Case for a Targeted Metabolic Therapy

por Renaud, David, Scholl-Bürgi, Sabine, Karall, Daniela, Michel, Miriam
Publicado 2023

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

por Koessler, Miriam, Haberlandt, Edda, Karall, Daniela, Baumann, Matthias, Höller, Alexander, Scholl‐Bürgi, Sabine
Publicado 2020

Metabolomics and random forests in patients with complex congenital heart disease

por Michel, Miriam, Laser, Kai Thorsten, Dubowy, Karl-Otto, Scholl-Bürgi, Sabine, Michel, Erik
Publicado 2022

Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C

por Höller, A., Albrecht, U., Baumgartner Sigl, S., Zöggeler, T., Ramoser, G., Bernar, B., Karall, D., Scholl-Bürgi, S.
Publicado 2021

Metabolomic Analyses of Plasma Reveals New Insights into Asphyxia and Resuscitation in Pigs

por Solberg, Rønnaug, Enot, David, Deigner, Hans-Peter, Koal, Therese, Scholl-Bürgi, Sabine, Saugstad, Ola D., Keller, Matthias
Publicado 2010

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

por Härter, Bettina, Benedicenti, Francesco, Karall, Daniela, Lausch, Ekkehard, Schweigmann, Gisela, Stanzial, Franco, Superti‐Furga, Andrea, Scholl‐Bürgi, Sabine
Publicado 2020

Dietary treatment of congenital chylothorax with skimmed breast milk

por Höck, Michaela, Höller, Alexander, Hammerl, Marlene, Wechselberger, Karina, Krösslhuber, Jakob, Kiechl-Kohlendorfer, Ursula, Scholl-Bürgi, Sabine, Karall, Daniela
Publicado 2021

Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders

por Zöggeler, Thomas, Stock, Katharina, Jörg-Streller, Monika, Spenger, Johannes, Konstantopoulou, Vassiliki, Hufgard-Leitner, Miriam, Scholl-Bürgi, Sabine, Karall, Daniela
Publicado 2021

Immunological Memory and Affinity Maturation After Vaccination in Patients With Propionic Acidemia

por Zlamy, Manuela, Zöggeler, Thomas, Bachmann, Magdalena, Schirmer, Michael, Lechner, Christian, Michel, Miriam, Schimkowitsch, Alexander, Karall, Daniela, Scholl-Bürgi, Sabine
Publicado 2022

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

por Huemer, Martina, Scholl-Bürgi, Sabine, Hadaya, Karine, Kern, Ilse, Beer, Ronny, Seppi, Klaus, Fowler, Brian, Baumgartner, Matthias R, Karall, Daniela
Publicado 2014

Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely

por Niederwanger, Christian, Lechner, Silvia, König, Lisa, Janecke, Andreas R., Pototschnig, Claus, Häussler, Beatrice, Scholl-Bürgi, Sabine, Müller, Thomas, Heinz-Erian, Peter
Publicado 2018

Comparative Serum Analyses Identify Cytokines and Hormones Commonly Dysregulated as Well as Implicated in Promoting Osteolysis in MMP-2-Deficient Mice and Children

por Sarker, Hassan, Hardy, Eugenio, Haimour, Ayman, Karim, Mahmoud A., Scholl-Bürgi, Sabine, Martignetti, John A., Botto, Lorenzo D., Fernandez-Patron, Carlos
Publicado 2020

The COVID‐19 pandemic reduced paediatric emergency department visits but did not significantly increase urgent cases

por Beck, Nikolas, Michel, Miriam, Klingkowski, Uwe, Binder, Elisabeth, Kapelari, Klaus, Maurer, Michael, Lamina, Claudia, Müller, Thomas, Karall, Daniela, Scholl‐Bürgi, Sabine
Publicado 2021

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

por Karall, Daniela, Brunner-Krainz, Michaela, Kogelnig, Katharina, Konstantopoulou, Vassiliki, Maier, Esther M, Möslinger, Dorothea, Plecko, Barbara, Sperl, Wolfgang, Volkmar, Barbara, Scholl-Bürgi, Sabine
Publicado 2015

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

por 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
Publicado 2021

Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism

por Wohlfarter, Yvonne, Eidelpes, Reiner, Yu, Ryan D., Sailer, Sabrina, Koch, Jakob, Karall, Daniela, Scholl-Bürgi, Sabine, Amberger, Albert, Hillen, Hauke S., Zschocke, Johannes, Keller, Markus A.
Publicado 2022

Correction to: Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism

por Wohlfarter, Yvonne, Eidelpes, Reiner, Yu, Ryan D., Sailer, Sabrina, Koch, Jakob, Karall, Daniela, Scholl-Bürgi, Sabine, Amberger, Albert, Hillen, Hauke S., Zschocke, Johannes, Keller, Markus A.
Publicado 2023

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

por 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
Publicado 2020

Plasma homocysteine levels and associated factors in community-dwelling adolescents: the EVA-TYROL study

por Gande, Nina, Hochmayr, Christoph, Staudt, Anna, Bernar, Benoît, Stock, Katharina, Kiechl, Sophia J., Geiger, Ralf, Griesmacher, Andrea, Scholl-Bürgi, Sabine, Knoflach, Michael, Pechlaner, Raimund, Kiechl-Kohlendorfer, Ursula
Publicado 2023