Works matching AU Scholl, Sabine

Results: 76

Frenotomy for tongue-tie (frenulum linguae breve) showed improved symptoms in the short- and long-term follow-up.

Published in:

2019

By:

Ramoser, Gabriele;
Guóth‐Gumberger, Márta;
Baumgartner‐Sigl, Sara;
Zoeggeler, Thomas;
Scholl‐Bürgi, Sabine;
Karall, Daniela;
Guóth-Gumberger, Márta;
Baumgartner-Sigl, Sara;
Scholl-Bürgi, Sabine

Publication type:

journal article

D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase ( GLYCTK).

Published in:

Human Mutation, 2010, v. 31, n. 12, p. 1280, doi. 10.1002/humu.21375

By:

Sass, Jörn Oliver;
Fischer, Kathleen;
Wang, Raymond;
Christensen, Ernst;
Scholl-Bürgi, Sabine;
Chang, Richard;
Kapelari, Klaus;
Walter, Melanie

Publication type:

Article

Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.

Published in:

Amino Acids, 2010, v. 38, n. 5, p. 1473, doi. 10.1007/s00726-009-0356-2

By:

Scholl-Bürgi, Sabine;
Sass, Jörn Oliver;
Heinz-Erian, Peter;
Amann, Edda;
Haberlandt, Edda;
Albrecht, Ursula;
Ertl, Claudia;
Sigl, Sara Baumgartner;
Lagler, Florian;
Rostasy, Kevin;
Karall, Daniela

Publication type:

Article

Comparative Metabolomics in Single Ventricle Patients after Fontan Palliation: A Strong Case for a Targeted Metabolic Therapy.

Published in:

Metabolites (2218-1989), 2023, v. 13, n. 8, p. 932, doi. 10.3390/metabo13080932

By:

Renaud, David;
Scholl-Bürgi, Sabine;
Karall, Daniela;
Michel, Miriam

Publication type:

Article

Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 4, p. N.PAG, doi. 10.3390/metabo12040291

By:

Zandl-Lang, Martina;
Züllig, Thomas;
Trötzmüller, Martin;
Naegelin, Yvonne;
Abela, Lucia;
Wilken, Bernd;
Scholl-Buergi, Sabine;
Karall, Daniela;
Kappos, Ludwig;
Köfeler, Harald;
Plecko, Barbara

Publication type:

Article

Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan Syndrome.

Published in:

Metabolites (2218-1989), 2021, v. 11, n. 12, p. 805, doi. 10.3390/metabo11120805

By:

Bartenbach, Lisa;
Karall, Thomas;
Koch, Jakob;
Keller, Markus Andreas;
Oberacher, Herbert;
Scholl-Bürgi, Sabine;
Karall, Daniela;
Oemer, Gregor;
Baumgartner, Daniela;
Meinel, Katharina;
Aly, Safwat;
Odri-Komazec, Irena;
Geiger, Ralf;
Michel, Miriam

Publication type:

Article

Neonatal screening for citrullinaemia.

Published in:

2003

By:

Sander, Johannes;
Janzen, Nils;
Sander, Stefanie;
Steuerwald, Ulrike;
Das, Anibh M.;
Scholl, Sabine;
K.Trefz, Friedrich;
Koch, Hans-Georg;
Häberle, Johannes;
Korall, Herbert;
Marquardt, Iris;
Korenke, Christoph;
Trefz, Friedrich K

Publication type:

journal article

Neonatal screening for medium chain acyl-CoA deficiency: high incidence in Lower Saxony (northern Germany).

Published in:

2001

By:

Sander, Stefanie;
Janzen, Nils;
Janetzky, Bernd;
Scholl, Sabine;
Steuerwald, Ulrike;
Schäfer, Jochen;
Sander, Johannes;
Sander, S;
Janzen, N;
Janetzky, B;
Scholl, S;
Steuerwald, U;
Schäfer, J;
Sander, J

Publication type:

Letter

When Fluency Signals Truth: Prior Successful Reliance on Fluency Moderates the Impact of Fluency on Truth Judgments.

Published in:

Journal of Behavioral Decision Making, 2014, v. 27, n. 3, p. 268, doi. 10.1002/bdm.1805

By:

Scholl, Sabine G.;
Greifeneder, Rainer;
Bless, Herbert

Publication type:

Article

The COVID‐19 pandemic reduced paediatric emergency department visits but did not significantly increase urgent cases.

Published in:

Acta Paediatrica, 2022, v. 111, n. 1, p. 130, doi. 10.1111/apa.16138

By:

Beck, Nikolas;
Michel, Miriam;
Klingkowski, Uwe;
Binder, Elisabeth;
Kapelari, Klaus;
Maurer, Michael;
Lamina, Claudia;
Müller, Thomas;
Karall, Daniela;
Scholl‐Bürgi, Sabine

Publication type:

Article

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

Published in:

2019

By:

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

Publication type:

journal article

Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.

Published in:

Developmental Medicine & Child Neurology, 2004, v. 46, n. 7, p. 481, doi. 10.1017/S0012162204000799

By:

Peter Weber;
Sabine Scholl;
E Regula Baumgartner

Publication type:

Article

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

Published in:

Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5

By:

Hübschmann, Oya Kuseyri;
Horvath, Gabriella;
Cortès-Saladelafont, Elisenda;
Yıldız, Yılmaz;
Mastrangelo, Mario;
Pons, Roser;
Friedman, Jennifer;
Mercimek-Andrews, Saadet;
Suet-Na Wong;
Pearson, Toni S.;
Zafeiriou, Dimitrios I.;
Kulhánek, Jan;
Kurian, Manju A.;
López-Laso, Eduardo;
Oppebøen, Mari;
Kılavuz, Sebile;
Wassenberg, Tessa;
Goez, Helly;
Scholl-Bürgi, Sabine;
Porta, Francesco

Publication type:

Article

Metabolomic Analyses of Plasma Reveals New Insights into Asphyxia and Resuscitation in Pigs.

Published in:

PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009606

By:

Solberg, Rønnaug;
Enot, David;
Deigner, Hans-Peter;
Koal, Therese;
Scholl-Bürgi, Sabine;
Saugstad, Ola D.;
Keller, Matthias

Publication type:

Article

SARS‐CoV‐2 infection in a 7‐year‐old girl with pancytopenia during acute lymphocytic leukemia maintenance therapy.

Published in:

Pediatric Blood & Cancer, 2020, v. 67, n. 11, p. 1, doi. 10.1002/pbc.28391

By:

Bernar, Benoît;
Kropshofer, Gabriele;
Crazzolara, Roman;
Kapelari, Klaus;
Griesmacher, Andrea;
Müller, Thomas;
Scholl‐Bürgi, Sabine

Publication type:

Article

Predictive validity of attentional functions in differentiating children with and without ADHD: a componential analysis.

Published in:

Developmental Medicine & Child Neurology, 2010, v. 52, n. 4, p. 371, doi. 10.1111/j.1469-8749.2009.03560.x

By:

KAUFMANN, LIANE;
ZIEREN, NIKOLA;
ZOTTER, SIBYLLE;
KARALL, DANIELA;
SCHOLL-BÜRGI, SABINE;
HABERLANDT, EDDA;
FIMM, BRUNO

Publication type:

Article

Chitotriosidase activity in juvenile idiopathic arthritis.

Published in:

Rheumatology International, 2008, v. 28, n. 9, p. 949, doi. 10.1007/s00296-008-0558-z

By:

Brunner, Jürgen K. H.;
Scholl-Bürgi, Sabine;
Hössinger, David;
Wondrak, Petra;
Prelog, Martina;
Zimmerhackl, Lothar-Bernd

Publication type:

Article

Chitotriosidase as a marker of disease activity in sarcoidosis.

Published in:

2007

By:

Brunner, Jürgen;
Scholl-Bürgi, Sabine;
Prelog, Martina;
Zimmerhackl, Lothar-Bernd

Publication type:

Letter

Chitotriosidase as a marker of disease activity in sarcoidosis.

Published in:

Rheumatology International, 2007, v. 27, n. 12, p. 1171, doi. 10.1007/s00296-007-0363-0

By:

Brunner, Jürgen;
Scholl-Bürgi, Sabine;
Zimmerhackl, Lothar-Bernd

Publication type:

Article

Disentangling the effects of alternation rate and maximum run length on judgments of randomness.

Published in:

Judgment & Decision Making, 2011, v. 6, n. 6, p. 531, doi. 10.1017/s1930297500002497

By:

Scholl, Sabine G.;
Greifeneder, Rainer

Publication type:

Article

Galactose epimerase deficiency: lessons from the GalNet registry.

Published in:

2022

By:

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

Publication type:

journal 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

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.

Published in:

Scientific Reports, 2016, p. 34017, doi. 10.1038/srep34017

By:

Pichler, Karin;
Karall, Daniela;
Kotzot, Dieter;
Steichen-Gersdorf, Elisabeth;
Rümmele-Waibel, Alexandra;
Mittaz-Crettol, Laureane;
Wanschitz, Julia;
Bonafé, Luisa;
Maurer, Kathrin;
Superti-Furga, Andrea;
Scholl-Bürgi, Sabine

Publication type:

Article

Coffee consumption protects against progression in liver cirrhosis and increases long-term survival after liver transplantation.

Published in:

Journal of Gastroenterology & Hepatology, 2016, v. 31, n. 8, p. 1470, doi. 10.1111/jgh.13319

By:

Friedrich, Kilian;
Smit, Mark;
Wannhoff, Andreas;
Rupp, Christian;
Scholl, Sabine G.;
Antoni, Christoph;
Dollinger, Matthias;
Neumann‐Haefelin, Christoph;
Stremmel, Wolfgang;
Weiss, Karl Heinz;
Schemmer, Peter;
Gotthardt, Daniel Nils

Publication type:

Article

Safety analysis of endoscopist-directed propofol sedation: A prospective, national multicenter study of 24 441 patients in German outpatient practices.

Published in:

Journal of Gastroenterology & Hepatology, 2014, v. 29, n. 3, p. 517, doi. 10.1111/jgh.12458

By:

Sieg, Andreas;
Beck, Sebastian;
Scholl, Sabine G;
Heil, Franz J;
Gotthardt, Daniel N.;
Stremmel, Wolfgang;
Rex, Douglas K;
Friedrich, Kilian

Publication type:

Article

Comparative Serum Analyses Identify Cytokines and Hormones Commonly Dysregulated as Well as Implicated in Promoting Osteolysis in MMP-2-Deficient Mice and Children.

Published in:

Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.568718

By:

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

Publication type:

Article

"We Can Do It" [Wir schaffen das] - Creative Impulses Through Migration (a Report from September 2017, with an Afterword on the Situation Today).

Published in:

Konturen, 2020, v. 11, p. 52, doi. 10.5399/uo/konturen.11.0.4806

By:

Scholl, Sabine

Publication type:

Article

Method comparison of HPLC-ninhydrin-photometry and UHPLC-PITC-tandem mass spectrometry for serum amino acid analyses in patients with complex congenital heart disease and controls.

Published in:

Metabolomics, 2020, v. 16, n. 12, p. 1, doi. 10.1007/s11306-020-01741-8

By:

Michel, Miriam;
Salvador, Christina;
Wiedemair, Verena;
Adam, Mark Gordian;
Laser, Kai Thorsten;
Dubowy, Karl-Otto;
Entenmann, Andreas;
Karall, Daniela;
Geiger, Ralf;
Zlamy, Manuela;
Scholl-Bürgi, Sabine

Publication type:

Article

ALG8-CDG: novel patients and review of the literature.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0289-7

By:

Höck, Michaela;
Wegleiter, Karina;
Ralser, Elisabeth;
Kiechl-Kohlendorfer, Ursula;
Scholl-Bürgi, Sabine;
Fauth, Christine;
Steichen, Elisabeth;
Pichler, Karin;
Lefeber, Dirk J.;
Matthjis, Gert;
Keldermans, Liesbeth;
Maurer, Kathrin;
Zschocke, Johannes;
Karall, Daniela

Publication type:

Article

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

ALG8-CDG: novel patients and review of the literature.

Published in:

2015

By:

Höck, Michaela;
Wegleiter, Karina;
Ralser, Elisabeth;
Kiechl-Kohlendorfer, Ursula;
Scholl-Bürgi, Sabine;
Fauth, Christine;
Steichen, Elisabeth;
Pichler, Karin;
Lefeber, Dirk J;
Matthjis, Gert;
Keldermans, Liesbeth;
Maurer, Kathrin;
Zschocke, Johannes;
Karall, Daniela

Publication type:

journal article

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 161, doi. 10.1186/s13023-014-0161-1

By:

Huemer, Martina;
Scholl-Bürgi, Sabine;
Hadaya, Karine;
Kern, Ilse;
Beer, Ronny;
Seppi, Klaus;
Fowler, Brian;
Baumgartner, Matthias R;
Karall, Daniela

Publication type:

Article

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0130-8

By:

Baumgartner, Matthias R.;
Hörster, Friederike;
Dionisi-Vici, Carlo;
Haliloglu, Goknur;
Karall, Daniela;
Chapman, Kimberly A.;
Huemer, Martina;
Hochuli, Michel;
Assoun, Murielle;
Ballhausen, Diana;
Burlina, Alberto;
Fowler, Brian;
Grünert, Sarah C.;
Grünewald, Stephanie;
Honzik, Tomas;
Merinero, Begoña;
Pérez-Cerdá, Celia;
Scholl-Bürgi, Sabine;
Skovby, Flemming;
Wijburg, Frits

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

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

Published in:

2014

By:

Huemer, Martina;
Scholl-Bürgi, Sabine;
Hadaya, Karine;
Kern, Ilse;
Beer, Ronny;
Seppi, Klaus;
Fowler, Brian;
Baumgartner, Matthias R;
Karall, Daniela

Publication type:

journal 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

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Published in:

2014

By:

Baumgartner, Matthias R;
Hörster, Friederike;
Dionisi-Vici, Carlo;
Haliloglu, Goknur;
Karall, Daniela;
Chapman, Kimberly A;
Huemer, Martina;
Hochuli, Michel;
Assoun, Murielle;
Ballhausen, Diana;
Burlina, Alberto;
Fowler, Brian;
Grünert, Sarah C;
Grünewald, Stephanie;
Honzik, Tomas;
Merinero, Begoña;
Pérez-Cerdá, Celia;
Scholl-Bürgi, Sabine;
Skovby, Flemming;
Wijburg, Frits

Publication type:

journal article

Gastric lactobezoar - a rare disorder?

Published in:

2012

By:

Heinz-Erian, Peter;
Gassner, Ingmar;
Klein-Franke, Andreas;
Jud, Veronika;
Trawoeger, Rudolf;
Niederwanger, Christian;
Mueller, Thomas;
Meister, Bernhard;
Scholl-Buergi, Sabine

Publication type:

journal article

Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German‐speaking countries.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12824

By:

Das, Anibh M.;
Ballhausen, Diana;
Haas, Dorothea;
Häberle, Johannes;
Hagedorn, Tobias;
Janson‐Mutsaerts, Cecilia;
Janzen, Nils;
Sander, Johannes;
Freisinger, Peter;
Karall, Daniela;
Meyer, Uta;
Mönch, Eberhard;
Morlot, Susanne;
Rosenbaum‐Fabian, Stefanie;
Scholl‐Bürgi, Sabine;
vom Dahl, Stephan;
Weinhold, Natalie;
Zeman, Jiri;
Lange, Karin

Publication type:

Article

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 220, doi. 10.1002/jimd.12717

By:

Aldrian, Denise;
Waldner, Birgit;
Vogel, Georg F.;
El‐Gharbawy, Areeg H.;
McKiernan, Patrick;
Vockley, Jerard;
Landau, Yuval E.;
Al Mutairi, Fuad;
Stepien, Karolina M.;
Kwok, Anne Mei‐Kwun;
Yıldız, Yılmaz;
Honzik, Tomas;
Kelifova, Silvie;
Ellaway, Carolyn;
Lund, Allan M.;
Mori, Mari;
Grünert, Sarah C.;
Scholl‐Bürgi, Sabine;
Zöggeler, Thomas;
Oberhuber, Rupert

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

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 566, doi. 10.1002/jimd.12370

By:

Forny, Patrick;
Hörster, Friederike;
Ballhausen, Diana;
Chakrapani, Anupam;
Chapman, Kimberly A.;
Dionisi‐Vici, Carlo;
Dixon, Marjorie;
Grünert, Sarah C.;
Grunewald, Stephanie;
Haliloglu, Goknur;
Hochuli, Michel;
Honzik, Tomas;
Karall, Daniela;
Martinelli, Diego;
Molema, Femke;
Sass, Jörn Oliver;
Scholl‐Bürgi, Sabine;
Tal, Galit;
Williams, Monique;
Huemer, Martina

Publication type:

Article

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 331, doi. 10.1007/s10545-016-9928-y

By:

Huemer, Martina;
Carvalho, Daniel;
Brum, Jaime;
Ünal, Özlem;
Coskun, Turgay;
Weisfeld-Adams, James;
Schrager, Nina;
Scholl-Bürgi, Sabine;
Schlune, Andrea;
Donner, Markus;
Hersberger, Martin;
Gemperle, Claudio;
Riesner, Brunhilde;
Ulmer, Hanno;
Häberle, Johannes;
Karall, Daniela

Publication type:

Article

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 905, doi. 10.1007/s10545-015-9836-6

By:

Huemer, Martina;
Karall, Daniela;
Schossig, Anna;
Abdenur, Jose;
Jasmi, Fatma;
Biagosch, Caroline;
Distelmaier, Felix;
Freisinger, Peter;
Graham, Brett;
Haack, Tobias;
Hauser, Natalie;
Hertecant, Jozef;
Ebrahimi-Fakhari, Darius;
Konstantopoulou, Vassiliki;
Leydiker, Karen;
Lourenco, Charles;
Scholl-Bürgi, Sabine;
Wilichowski, Ekkehard;
Wolf, Nicole;
Wortmann, Saskia

Publication type:

Article

'Crossing borders' SSIEM 2014 annual symposium in Innsbruck.

Published in:

2015

By:

Karall, Daniela;
Scholl-Bürgi, Sabine;
Zschocke, Johannes

Publication type:

Editorial

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

Amino acid metabolism in patients with propionic acidaemia.

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Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 65, doi. 10.1007/s10545-010-9245-9

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Scholl-Bürgi, Sabine;
Sass, Jörn;
Zschocke, Johannes;
Karall, Daniela

Publication type:

Article

Treatment of an Opposing Metabolic Situation: GLUT1‐Deficiency Syndrome and Type 1 Diabetes.

Published in:

2025

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Schoenlaub, Anna K.;
Hoeller, Alexander;
Hofer, Sabine;
Haberlandt, Edda;
Steichen‐Gersdorf, Elisabeth;
Karall, Daniela;
Forster, Dorottya;
Scholl‐Bürgi, Sabine

Publication type:

Case Study

Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation.

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Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 3, doi. 10.1002/jmd2.12169

By:

Koessler, Miriam;
Haberlandt, Edda;
Karall, Daniela;
Baumann, Matthias;
Höller, Alexander;
Scholl‐Bürgi, Sabine

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1203

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Härter, Bettina;
Benedicenti, Francesco;
Karall, Daniela;
Lausch, Ekkehard;
Schweigmann, Gisela;
Stanzial, Franco;
Superti‐Furga, Andrea;
Scholl‐Bürgi, Sabine

Publication type:

Article