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

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Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring von Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara, Longo, Nicola, Korenke, G. Christoph, Mercimek-Mahmutoglu, Saadet, Marquart, Iris, Barshop, Bruce, Grolik, Christiane, Schlune, Andrea, Angle, Brad, Araújo, Helena Caldeira, Coskun, Turgay, Diogo, Luisa, Geraghty, Michael, Haliloglu, Goknur, Konstantopoulou, Vassiliki, Leuzzi, Vincenzo, Levtova, Alina, MacKenzie, Jennifer, Maranda, Bruno, Mhanni, Aizeddin A., Mitchell, Grant, Morris, Andrew, Newlove, Theresa, Renaud, Deborah, Scaglia, Fernando, Valayannopoulos, Vassili, van Spronsen, Francjan J., Verbruggen, Krijn T., Yuskiv, Nataliya, Nyhan, William, Schulze, Andreas

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Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer von Ni, Yang, Hagras, Muhammad A, Konstantopoulou, Vassiliki, Mayr, Johannes A, Stuchebrukhov, Alexei A, Meierhofer, David

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

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

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Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency von Lotz-Havla, Amelie S, Röschinger, Wulf, Schiergens, Katharina, Singer, Katharina, Karall, Daniela, Konstantopoulou, Vassiliki, Wortmann, Saskia B, Maier, Esther M

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25th Annual Meeting of the German Society of Newborn Screening von Konstantopoulou, Vassiliki, Zeyda, Maximilian

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Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria von Beghini, Marianna, Pichler, Maximilian, Tinnefeld, Fiona Carolina, Metz, Matthäus, Möslinger, Dorothea, Konstantopoulou, Vassiliki, Spenger, Johannes, Kautzky-Willer, Alexandra, Frommlet, Florian, Scherer, Thomas, Hufgard-Leitner, Miriam

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The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear von Knöpfli, Stella, Goeschl, Bernadette, Zeyda, Maximilian, Baghdasaryan, Anna, Baumgartner-Kaut, Margot, Baumgartner, Matthias R, Herle, Marion, Margreitter, Julian, Poms, Martin, Wortmann, Saskia B, Konstantopoulou, Vassiliki, Huemer, Martina

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TMEM70 deficiency: long-term outcome of 48 patients von Magner, Martin, Dvorakova, Veronika, Tesarova, Marketa, Mazurova, Stella, Hansikova, Hana, Zahorec, Martin, Brennerova, Katarina, Bzduch, Vladimir, Spiegel, Ronen, Horovitz, Yoseph, Mandel, Hanna, Eminoğlu, Fatma Tuba, Mayr, Johannes Adalbert, Koch, Johannes, Martinelli, Diego, Bertini, Enrico, Konstantopoulou, Vassiliki, Smet, Joél, Rahman, Shamima, Broomfield, Alexander, Stojanović, Vesna, Dionisi-Vici, Carlo, van Coster, Rudy, Morava-Kozicz, Eva, Sperl, Wolfgang, Zeman, Jiri, Honzik, Tomas

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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 von Rozmaric, Tomaz, Mitulovic, Goran, Konstantopoulou, Vassiliki, Goeschl, Bernadette, Huemer, Martina, Plecko, Barbara, Spenger, Johannes, Wortmann, Saskia B., Scholl-Burgi, Sabine, Karall, Daniela, Greber-Platzer, Susanne, Zeyda, Maximilian

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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening von 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

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

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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 von 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

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Risk factors for impaired health-related quality of life in a cohort of pediatric patients with inborn metabolic diseases von Siegert, Sandy, Roscher, Anne, Moeslinger, Dorothea, Konstantopoulou, Vassiliki, Herle, Marion

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Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site von Otsuka, Hiroki, Sasai, Hideo, Nakama, Mina, Aoyama, Yuka, Abdelkreem, Elsayed, Ohnishi, Hidenori, Konstantopoulou, Vassiliki, Sass, Jörn Oliver, Fukao, Toshiyuki

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Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study von Guffon, Nathalie, Konstantopoulou, Vassiliki, Hennermann, Julia B., Muschol, Nicole, Bruno, Irene, Tummolo, Albina, Ceravolo, Ferdinando, Zardi, Giulia, Ballabeni, Andrea, Lund, Allan

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

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Long‐term safety and efficacy of velmanase alfa treatment in children under 6years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study von Guffon, Nathalie, Konstantopoulou, Vassiliki, Hennermann, Julia B, Muschol, Nicole, Bruno, Irene, Tummolo, Albina, Ceravolo, Ferdinando, Zardi, Giulia, Ballabeni, Andrea, Lund, Allan

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Project “Backtoclinic I”: An overview on the state of care of adult PKU patients in Austria von Beghini, Marianna, Resch, Felix J., Möslinger, Dorothea, Konstantopoulou, Vassiliki, Karall, Daniela, Scholl-Bürgi, Sabine, Brunner-Krainz, Michaela, Plecko, Barbara, Spenger, Johannes, Kautzky-Willer, Alexandra, Scherer, Thomas, Hufgard-Leitner, Miriam

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