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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.
Published in:
Metabolites (2218-1989), 2023, v. 13, n. 11, p. 1141, doi. 10.3390/metabo13111141
By:
- 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.
Publication type:
Article
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.
Published in:
2021
By:
- Herle, Marion;
- Brunner-Krainz, Michaela;
- Karall, Daniela;
- Goeschl, Bernadette;
- Möslinger, Dorothea;
- Zobel, Joachim;
- Plecko, Barbara;
- Scholl-Bürgi, Sabine;
- Spenger, Johannes;
- Wortmann, Saskia B.;
- Huemer, Martina
Publication type:
journal article
Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders.
Published in:
2021
By:
- Zöggeler, Thomas;
- Stock, Katharina;
- Jörg-Streller, Monika;
- Spenger, Johannes;
- Konstantopoulou, Vassiliki;
- Hufgard-Leitner, Miriam;
- Scholl-Bürgi, Sabine;
- Karall, Daniela
Publication type:
journal article
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Published in:
Journal of Neurology, 2023, v. 270, n. 2, p. 909, doi. 10.1007/s00415-022-11440-0
By:
- Krenn, Martin;
- Sener, Merve;
- Rath, Jakob;
- Zulehner, Gudrun;
- Keritam, Omar;
- Wagner, Matias;
- Laccone, Franco;
- Iglseder, Stephan;
- Marte, Sonja;
- Baumgartner, Manuela;
- Eisenkölbl, Astrid;
- Liechtenstein, Christian;
- Rudnik, Sabine;
- Quasthoff, Stefan;
- Grinzinger, Susanne;
- Spenger, Johannes;
- Wortmann, Saskia B.;
- Löscher, Wolfgang N.;
- Zimprich, Fritz;
- Kellersmann, Anna
Publication type:
Article
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 between 1921 and 2021.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 144, doi. 10.1002/jimd.12442
By:
- 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
Publication type:
Article
Congenital disorders of glycosylation with defective fucosylation.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1441, doi. 10.1002/jimd.12426
By:
- Hüllen, Andreas;
- Falkenstein, Kristina;
- Weigel, Corina;
- Huidekoper, Hidde;
- Naumann‐Bartsch, Nora;
- Spenger, Johannes;
- Feichtinger, René G.;
- Schaefers, Jacqueline;
- Frenz, Stephanie;
- Kotlarz, Daniel;
- Momen, Tooba;
- Khoshnevisan, Razieh;
- Riedhammer, Korbinian M.;
- Santer, René;
- Herget, Theresia;
- Rennings, Alexander;
- Lefeber, Dirk J.;
- Mayr, Johannes A.;
- Thiel, Christian;
- Wortmann, Saskia B.
Publication type:
Article
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.
Published in:
2022
By:
- 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
Publication type:
Correction Notice
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020032
By:
- 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
Publication type:
Article
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns.
Published in:
Diagnostics (2075-4418), 2020, v. 10, n. 9, p. 626, doi. 10.3390/diagnostics10090626
By:
- 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
Publication type:
Article
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Published in:
Nutrients, 2022, v. 14, n. 17, p. 3605, doi. 10.3390/nu14173605
By:
- 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
Publication type:
Article

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