25th Annual Meeting of the German Society of Newborn Screening

por Konstantopoulou, Vassiliki, Zeyda, Maximilian
Publicado 2018

Risk factors for impaired health-related quality of life in a cohort of pediatric patients with inborn metabolic diseases

por Siegert, Sandy, Roscher, Anne, Moeslinger, Dorothea, Konstantopoulou, Vassiliki, Herle, Marion
Publicado 2021

Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer

por Ni, Yang, Hagras, Muhammad A., Konstantopoulou, Vassiliki, Mayr, Johannes A., Stuchebrukhov, Alexei A., Meierhofer, David
Publicado 2019

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

por Lotz-Havla, Amelie S., Röschinger, Wulf, Schiergens, Katharina, Singer, Katharina, Karall, Daniela, Konstantopoulou, Vassiliki, Wortmann, Saskia B., Maier, Esther M.
Publicado 2018

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

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

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

por 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
Publicado 2020

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

por Unsinn, Caroline, Das, Anibh, Valayannopoulos, Vassili, Thimm, Eva, Beblo, Skadi, Burlina, Alberto, Konstantopoulou, Vassiliki, Mayorandan, Sebene, de Lonlay, Pascale, Rennecke, Jörg, Derbinski, Jens, Hoffmann, Georg F., Häberle, Johannes
Publicado 2016

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

por Achleitner, Melanie T., Jans, Judith J. M., Ebner, Laura, Spenger, Johannes, Konstantopoulou, Vassiliki, Feichtinger, René G., Brugger, Karin, Mayr, Doris, Wevers, Ron A., Thiel, Christian, Wortmann, Saskia B., Mayr, Johannes A.
Publicado 2023

The TGF‐b/SOX4 axis and ROS‐driven autophagy co‐mediate CD39 expression in regulatory T‐cells

por Gerner, Marlene C., Ziegler, Liesa S., Schmidt, Ralf L. J., Krenn, Martin, Zimprich, Fritz, Uyanik‐Ünal, Keziban, Konstantopoulou, Vassiliki, Derdak, Sophia, Del Favero, Giorgia, Schwarzinger, Ilse, Boztug, Kaan, Schmetterer, Klaus G.
Publicado 2020

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

por Spenger, Johannes, Maier, Esther M., Wechselberger, Katharina, Bauder, Florian, Kocher, Melanie, Sperl, Wolfgang, Preisel, Martin, Schiergens, Katharina A., Konstantopoulou, Vassiliki, Röschinger, Wulf, Häberle, Johannes, Schmitt-Mechelke, Thomas, Wortmann, Saskia B., Fingerhut, Ralph
Publicado 2021

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32

por Spenger, Johannes, Maier, Esther M., Wechselberger, Katharina, Bauder, Florian, Kocher, Melanie, Sperl, Wolfgang, Preisel, Martin, Schiergens, Katharina A., Konstantopoulou, Vassiliki, Röschinger, Wulf, Häberle, Johannes, Schmitt-Mechelke, Thomas, Wortmann, Saskia B., Fingerhut, Ralph
Publicado 2021

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

por Koch, Johannes, Freisinger, Peter, Feichtinger, René G, Zimmermann, Franz A, Rauscher, Christian, Wagentristl, Hans P, Konstantopoulou, Vassiliki, Seidl, Rainer, Haack, Tobias B, Prokisch, Holger, Ahting, Uwe, Sperl, Wolfgang, Mayr, Johannes A, Maier, Esther M
Publicado 2015

100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria bet...

por Ramoser, Gabriele, Caferri, Federica, Radlinger, Bernhard, Brunner‐Krainz, Michaela, Herbst, Sybille, Huemer, Martina, Hufgard‐Leitner, Miriam, Kircher, Susanne G., Konstantopoulou, Vassiliki, Löscher, Wolfgang, Möslinger, Dorothea, Plecko, Barbara, Spenger, Johannes, Stulnig, Thomas, Sunder‐Plassmann, Gere, Wortmann, Saskia, Scholl‐Bürgi, Sabine, Karall, Daniela
Publicado 2021

Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations

por van den Boogert, Marjolein A.W., Crunelle, Cleo L., Ali, Lubna, Larsen, Lars E., Kuil, Sacha D., Levels, Johannes H.M., Schimmel, Alinda W.M., Konstantopoulou, Vassiliki, Guerin, Maryse, Kuivenhoven, Jan Albert, Dallinga‐Thie, Geesje M., Stroes, Erik S.G., Lefeber, Dirk J., Holleboom, Adriaan G.
Publicado 2019

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

por Grünert, Sarah C, Müllerleile, Stephanie, De Silva, Linda, Barth, Michael, Walter, Melanie, Walter, Kerstin, Meissner, Thomas, Lindner, Martin, Ensenauer, Regina, Santer, René, Bodamer, Olaf A, Baumgartner, Matthias R, Brunner-Krainz, Michaela, Karall, Daniela, Haase, Claudia, Knerr, Ina, Marquardt, Thorsten, Hennermann, Julia B, Steinfeld, Robert, Beblo, Skadi, Koch, Hans-Georg, Konstantopoulou, Vassiliki, Scholl-Bürgi, Sabine, van Teeffelen-Heithoff, Agnes, Suormala, Terttu, Sperl, Wolfgang, Kraus, Jan P, Superti-Furga, Andrea, Schwab, Karl Otfried, Sass, Jörn Oliver
Publicado 2013

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

por Bölsterli, Bigna K., Boltshauser, Eugen, Palmieri, Luigi, Spenger, Johannes, Brunner-Krainz, Michaela, Distelmaier, Felix, Freisinger, Peter, Geis, Tobias, Gropman, Andrea L., Häberle, Johannes, Hentschel, Julia, Jeandidier, Bruno, Karall, Daniela, Keren, Boris, Klabunde-Cherwon, Annick, Konstantopoulou, Vassiliki, Kottke, Raimund, Lasorsa, Francesco M., Makowski, Christine, Mignot, Cyril, O’Gorman Tuura, Ruth, Porcelli, Vito, Santer, René, Sen, Kuntal, Steinbrücker, Katja, Syrbe, Steffen, Wagner, Matias, Ziegler, Andreas, Zöggeler, Thomas, Mayr, Johannes A., Prokisch, Holger, Wortmann, Saskia B.
Publicado 2022

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

por Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger
Publicado 2016