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
Published 2010-03-01

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

by Bettina Härter, Francesco Benedicenti, Daniela Karall, Ekkehard Lausch, Gisela Schweigmann, Franco Stanzial, Andrea Superti‐Furga, Sabine Scholl‐Bürgi
Published 2020-06-01

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
Published 2021-08-01

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
Published 2021-01-01

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
Published 2018-03-01

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
Published 2020-09-01

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
Published 2021-08-01

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome

by Jérôme Bürgi, Béatrice Kunz, Laurence Abrami, Julie Deuquet, Alessandra Piersigilli, Sabine Scholl-Bürgi, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, Paolo Bonaldo, F. Gisou van der Goot
Published 2017-06-01

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
Published 2020-08-01

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
Published 2018-05-01

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

by Nina A. Zeltner, Mendy M. Welsink-Karssies, Markus A. Landolt, Dominique Bosshard-Bullinger, Fabia Keller, Annet M. Bosch, Marike Groenendijk, Sarah C. Grünert, Daniela Karall, Beatrix Rettenbacher, Sabine Scholl-Bürgi, Matthias R. Baumgartner, Martina Huemer
Published 2019-11-01

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
Published 2020-04-01

Correction to: 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)
Published 2020-08-01

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)
Published 2020-05-01

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
Published 2021-09-01