Bilanz ziehen – Zahlen, Daten, Fakten

Yazar: Karall, Daniela, Scholl-Bürgi, Sabine
Yayımlandı Padiatr Padol (2020)

Interleukin 1 blockade with canacinumab for hyperimmunoglobulin D and periodic fever syndrome

Yazar: Brunner, Juergen, Binder, Elisabeth, Karall, Daniela, Zschocke, Johannes, Fauth, Christine
Baskı/Yayın Bilgisi 2014

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery

Yazar: Hagenbuchner, Judith, Scholl-Buergi, Sabine, Karall, Daniela, Ausserlechner, Michael J.
Yayımlandı Sci Rep (2018)

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

Yazar: Koessler, Miriam, Haberlandt, Edda, Karall, Daniela, Baumann, Matthias, Höller, Alexander, Scholl‐Bürgi, Sabine
Yayımlandı JIMD Rep (2020)

Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy

Yazar: Haberlandt, Edda, Valovka, Taras, Janjic, Tanja, Müller, Thomas, Blatsios, Georgios, Karall, Daniela, Janecke, Andreas R.
Yayımlandı Mol Genet Genomic Med (2021)

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

Yazar: Härter, Bettina, Benedicenti, Francesco, Karall, Daniela, Lausch, Ekkehard, Schweigmann, Gisela, Stanzial, Franco, Superti‐Furga, Andrea, Scholl‐Bürgi, Sabine
Yayımlandı Mol Genet Genomic Med (2020)

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Yazar: Lotz-Havla, Amelie S., Röschinger, Wulf, Schiergens, Katharina, Singer, Katharina, Karall, Daniela, Konstantopoulou, Vassiliki, Wortmann, Saskia B., Maier, Esther M.
Yayımlandı Orphanet J Rare Dis (2018)

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

Yazar: Zöggeler, Thomas, Stock, Katharina, Jörg-Streller, Monika, Spenger, Johannes, Konstantopoulou, Vassiliki, Hufgard-Leitner, Miriam, Scholl-Bürgi, Sabine, Karall, Daniela
Yayımlandı Orphanet J Rare Dis (2021)

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

Yazar: Huemer, Martina, Scholl-Bürgi, Sabine, Hadaya, Karine, Kern, Ilse, Beer, Ronny, Seppi, Klaus, Fowler, Brian, Baumgartner, Matthias R, Karall, Daniela
Yayımlandı Orphanet J Rare Dis (2014)

Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

Yazar: Nettesheim, Susanne, Kölker, Stefan, Karall, Daniela, Häberle, Johannes, Posset, Roland, Hoffmann, Georg F., Heinrich, Beate, Gleich, Florian, Garbade, Sven F.
Yayımlandı Orphanet J Rare Dis (2017)

Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders

Yazar: Alatibi, Khaled I., Hagenbuchner, Judith, Wehbe, Zeinab, Karall, Daniela, Ausserlechner, Michael J., Vockley, Jerry, Spiekerkoetter, Ute, Grünert, Sarah C., Tucci, Sara
Yayımlandı Cells (2021)

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

Yazar: Karall, Daniela, Brunner-Krainz, Michaela, Kogelnig, Katharina, Konstantopoulou, Vassiliki, Maier, Esther M, Möslinger, Dorothea, Plecko, Barbara, Sperl, Wolfgang, Volkmar, Barbara, Scholl-Bürgi, Sabine
Yayımlandı Orphanet J Rare Dis (2015)

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

Yazar: 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
Yayımlandı JIMD Rep (2016)

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

Yazar: 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
Yayımlandı Metabolomics (2020)

MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

Yazar: Finkenstedt, Armin, Schranz, Melanie, Bösch, Sylvia, Karall, Daniela, Bürgi, Sabine Scholl, Ensinger, Christian, Drach, Mathias, Mayr, Johannes A., Janecke, Andreas R, Vogel, Wolfgang, Nachbaur, David, Zoller, Heinz
Baskı/Yayın Bilgisi 2012

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

Yazar: 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
Yayımlandı Sci Rep (2016)

Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns

Yazar: 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
Yayımlandı Diagnostics (Basel) (2020)

Spectrum of combined respiratory chain defects

Yazar: Mayr, Johannes A., Haack, Tobias B., Freisinger, Peter, Karall, Daniela, Makowski, Christine, Koch, Johannes, Feichtinger, René G., Zimmermann, Franz A., Rolinski, Boris, Ahting, Uwe, Meitinger, Thomas, Prokisch, Holger, Sperl, Wolfgang
Yayımlandı J Inherit Metab Dis (2015)

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

Yazar: 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
Yayımlandı JIMD Rep (2017)

ALG8-CDG: novel patients and review of the literature

Yazar: Höck, Michaela, Wegleiter, Karina, Ralser, Elisabeth, Kiechl-Kohlendorfer, Ursula, Scholl-Bürgi, Sabine, Fauth, Christine, Steichen, Elisabeth, Pichler, Karin, Lefeber, Dirk J., Matthjis, Gert, Keldermans, Liesbeth, Maurer, Kathrin, Zschocke, Johannes, Karall, Daniela
Yayımlandı Orphanet J Rare Dis (2015)