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Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0236-7
By:
- Karall, Daniela;
- Brunner-Krainz, Michaela;
- Kogelnig, Katharina;
- Konstantopoulou, Vassiliki;
- Maier, Esther M.;
- Möslinger, Dorothea;
- Plecko, Barbara;
- Sperl, Wolfgang;
- Volkmar, Barbara;
- Scholl-Bürgi, Sabine
Publication type:
Article
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0107-7
By:
- Mayorandan, Sebene;
- Meyer, Uta;
- Gokcay, Gülden;
- Segarra, Nuria Garcia;
- de Baulny, Hélène Ogier;
- van Spronsen, Francjan;
- Zeman, Jiri;
- de Laet, Corinne;
- Spiekerkoetter, Ute;
- Thimm, Eva;
- Maiorana, Arianna;
- Dionisi-Vici, Carlo;
- Moeslinger, Dorothea;
- Brunner-Krainz, Michaela;
- Lotz-Havla, Amelie Sophia;
- Cocho de Juan, José Angel;
- Couce Pico, Maria Luz;
- Santer, René;
- Scholl-Bürgi, Sabine;
- Mandel, Hanna
Publication type:
Article
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Published in:
2014
By:
- Mayorandan, Sebene;
- Meyer, Uta;
- Gokcay, Gülden;
- Segarra, Nuria Garcia;
- de Baulny, Hélène Ogier;
- van Spronsen, Francjan;
- Zeman, Jiri;
- de Laet, Corinne;
- Spiekerkoetter, Ute;
- Thimm, Eva;
- Maiorana, Arianna;
- Dionisi-Vici, Carlo;
- Moeslinger, Dorothea;
- Brunner-Krainz, Michaela;
- Lotz-Havla, Amelie Sophia;
- Cocho de Juan, José Angel;
- Couce Pico, Maria Luz;
- Santer, René;
- Scholl-Bürgi, Sabine;
- Mandel, Hanna
Publication type:
journal article
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-6
By:
- 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
Publication type:
Article
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
Published in:
2013
By:
- 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
Publication type:
journal article
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Published in:
Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/7202589
By:
- Feichtinger, René G.;
- Brunner-Krainz, Michaela;
- Alhaddad, Bader;
- Wortmann, Saskia B.;
- Kovacs-Nagy, Reka;
- Stojakovic, Tatjana;
- Erwa, Wolfgang;
- Resch, Bernhard;
- Windischhofer, Werner;
- Verheyen, Sarah;
- Uhrig, Sabine;
- Windpassinger, Christian;
- Locker, Felix;
- Makowski, Christine;
- Strom, Tim M.;
- Meitinger, Thomas;
- Prokisch, Holger;
- Sperl, Wolfgang;
- Haack, Tobias B.;
- Mayr, Johannes A.
Publication type:
Article
Clinical-Pathological Conference Series from the Medical University of Graz.
Published in:
2018
By:
- Fabian, Elisabeth;
- Schiller, Dietmar;
- Toplak, Hermann;
- Brunner-Krainz, Michaela;
- Fazekas, Franz;
- Schoefl, Rainer;
- Krejs, Guenter J.
Publication type:
Case Study
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
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
Published in:
Journal of Neurology, 2015, v. 262, n. 9, p. 2124, doi. 10.1007/s00415-015-7727-2
By:
- Strickland, Alleene;
- Schabhüttl, Maria;
- Offenbacher, Hans;
- Synofzik, Matthis;
- Hauser, Natalie;
- Brunner-Krainz, Michaela;
- Gruber-Sedlmayr, Ursula;
- Moore, Steven;
- Windhager, Reinhard;
- Bender, Benjamin;
- Harms, Matthew;
- Klebe, Stephan;
- Young, Peter;
- Kennerson, Marina;
- Garcia, Avencia;
- Gonzalez, Michael;
- Züchner, Stephan;
- Schule, Rebecca;
- Shy, Michael;
- Auer-Grumbach, Michaela
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
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 677, doi. 10.1002/jimd.12338
By:
- Kožich, Viktor;
- Sokolová, Jitka;
- Morris, Andrew A. M.;
- Pavlíková, Markéta;
- Gleich, Florian;
- Kölker, Stefan;
- Krijt, Jakub;
- Dionisi‐Vici, Carlo;
- Baumgartner, Matthias R.;
- Blom, Henk J.;
- Huemer, Martina;
- Aldámiz‐Echevarría, Luis;
- Arantes, Rodrigo Rezende;
- Arrieta, Francisco;
- Blasco‐Alonso, Javier;
- Brouwers, Martijn;
- Brunner‐Krainz, Michaela;
- Bueno, María;
- Peláez, Rosa Burgos;
- Cano, Aline
Publication type:
Article
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
Published in:
Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 7, doi. 10.1007/s10545-012-9485-y
By:
- Sterl, Elisabeth;
- Paul, Karl;
- Paschke, Eduard;
- Zschocke, Johannes;
- Brunner-Krainz, Michaela;
- Windisch, Eva;
- Konstantopoulou, Vassiliki;
- Möslinger, Dorothea;
- Karall, Daniela;
- Scholl-Bürgi, Sabine;
- Sperl, Wolfgang;
- Lagler, Florian;
- Plecko, Barbara
Publication type:
Article
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
Published in:
2019
By:
- Waich, Stephanie;
- Roscher, Anne;
- Brunner-Krainz, Michaela;
- Cortina, Gerard;
- Köstl, Gerhard;
- Feichtinger, Rene G.;
- Entenmann, Andreas;
- Müller, Thomas;
- Knisely, A.S.;
- Mayr, Johannes A.;
- Janecke, Andreas R.;
- Vodopiutz, Julia
Publication type:
journal article
Alexander disease: An important mimicker of focal brainstem glioma.
Published in:
Pediatric Blood & Cancer, 2010, v. 54, n. 3, p. 486, doi. 10.1002/pbc.22334
By:
- Ring, Stefan;
- Lackner, Herwig;
- Urban, Christian;
- Brunner-Krainz, Michaela;
- Plecko-Startinig, Barbara
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

Found: 15