Comparative Metabolomics in Single Ventricle Patients after Fontan Palliation: A Strong Case for a Targeted Metabolic Therapy by David Renaud, Sabine Scholl-Bürgi, Daniela Karall, Miriam Michel

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Metabolomics and random forests in patients with complex congenital heart disease by Miriam Michel, Kai Thorsten Laser, Karl-Otto Dubowy, Sabine Scholl-Bürgi, Erik Michel

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Metabolomic analyses of plasma reveals new insights into asphyxia and resuscitation in pigs. by Rønnaug Solberg, David Enot, Hans-Peter Deigner, Therese Koal, Sabine Scholl-Bürgi, Ola D Saugstad, Matthias Keller

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Dietary treatment of congenital chylothorax with skimmed breast milk by Michaela Höck, Alexander Höller, Marlene Hammerl, Karina Wechselberger, Jakob Krösslhuber, Ursula Kiechl-Kohlendorfer, Sabine Scholl-Bürgi, Daniela Karall

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

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Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely by Christian Niederwanger, Silvia Lechner, Lisa König, Andreas R. Janecke, Claus Pototschnig, Beatrice Häussler, Sabine Scholl-Bürgi, Thomas Müller, Peter Heinz-Erian

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

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A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria by Marion Herle, Michaela Brunner-Krainz, Daniela Karall, Bernadette Goeschl, Dorothea Möslinger, Joachim Zobel, Barbara Plecko, Sabine Scholl-Bürgi, Johannes Spenger, Saskia B. Wortmann, Martina Huemer

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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 by Tomaž Rozmarič, Goran Mitulović, Vassiliki Konstantopoulou, Bernadette Goeschl, Martina Huemer, Barbara Plecko, Johannes Spenger, Saskia B. Wortmann, Sabine Scholl-Bürgi, Daniela Karall, Susanne Greber-Platzer, Maximilian Zeyda

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Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan Syndrome by Lisa Bartenbach, Thomas Karall, Jakob Koch, Markus Andreas Keller, Herbert Oberacher, Sabine Scholl-Bürgi, Daniela Karall, Gregor Oemer, Daniela Baumgartner, Katharina Meinel, Safwat Aly, Irena Odri-Komazec, Ralf Geiger, Miriam Michel

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Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism by Florin Bösch, Markus A. Landolt, Matthias R. Baumgartner, Susana Fernandez, Patrick Forny, Matthias Gautschi, Sarah C. Grünert, Johannes Häberle, Carolina Horvath, Daniela Karall, Danila Lampis, Marianne Rohrbach, Sabine Scholl-Bürgi, Gabor Szinnai, Martina Huemer

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Tolerability of inhaled N-chlorotaurine in humans: a double-blind randomized phase I clinical study by Roland Arnitz, Markus Stein, Petra Bauer, Barbara Lanthaler, Herbert Jamnig, Sabine Scholl-Bürgi, Katharina Stempfl-Al-Jazrawi, Hanno Ulmer, Bernhard Baumgartner, Sabine Embacher, Simon Geisler, Johanna M. Gostner, Bernhard Müllinger, Beate Kälz, Markus Nagl

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Targeted metabolomic analysis of serum phospholipid and acylcarnitine in the adult Fontan patient with a dominant left ventricle by Miriam Michel, Karl-Otto Dubowy, Manuela Zlamy, Daniela Karall, Mark Gordian Adam, Andreas Entenmann, Markus Andreas Keller, Jakob Koch, Irena Odri Komazec, Ralf Geiger, Christina Salvador, Christian Niederwanger, Udo Müller, Sabine Scholl-Bürgi, Kai Thorsten Laser

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Plasma homocysteine levels and associated factors in community-dwelling adolescents: the EVA-TYROL study by Nina Gande, Christoph Hochmayr, Anna Staudt, Benoît Bernar, Katharina Stock, Sophia J. Kiechl, Ralf Geiger, Ralf Geiger, Andrea Griesmacher, Sabine Scholl-Bürgi, Michael Knoflach, Raimund Pechlaner, Ursula Kiechl-Kohlendorfer, the (Early Vascular Ageing) EVA Study Group, the (Early Vascular Ageing) EVA Study Group

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Galactose epimerase deficiency: lessons from the GalNet registry by Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo

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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies by Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)

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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines by Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen

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Brain function in classic galactosemia, a galactosemia network (GalNet) members review by Bianca Panis, Bianca Panis, Bianca Panis, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Annet M. Bosch, Annet M. Bosch, Martijn C. G. J. Brouwers, Martijn C. G. J. Brouwers, Alberto Burlina, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, María L. Couce, Anibh M. Das, Anibh M. Das, Didem Demirbas, Aurélie Empain, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Elisa Leão-Teles, Dorothea Möslinger, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Katrin Õunap, Adriana Pané, Adriana Pané, Sabrina Paci, Sabrina Paci, Rossella Parini, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo

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