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Daniela Karall

Showing results (71-80 of 129) with videos related to

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Journal of Inherited Metabolic Disease|April 25, 2012
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patientsElisabeth Sterl, Karl Paul, Eduard Paschke, et al.
Orphanet Journal of Rare Diseases|March 28, 2026
A suspicion index tool to aid the diagnosis and treatment of ASMDAnna-Maria Wiesinger, Georg Zimmermann, Wanda Lauth, et al.
Molecular Genetics and Metabolism|June 4, 2021
Project "Backtoclinic I": An overview on the state of care of adult PKU patients in AustriaMarianna Beghini, Felix J Resch, Dorothea Möslinger, et al.
JIMD Reports|March 2, 2017
Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of MetabolismNina A Zeltner, Matthias R Baumgartner, Aljona Bondarenko, et al.
Journal of Inherited Metabolic Disease|March 18, 2015
Spectrum of combined respiratory chain defectsJohannes A Mayr, Tobias B Haack, Peter Freisinger, et al.
Wiener Medizinische Wochenschrift (1946)|March 18, 2026
[Transition and transfer from pediatrics to adult medicine]Valentina Obermayr, Ingrid Pichler, Dorothea Appelt, et al.
Metabolites|December 23, 2021
Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan SyndromeLisa Bartenbach, Thomas Karall, Jakob Koch, et al.
American Journal of Medical Genetics. Part A|November 7, 2015
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2Christine Fauth, Katharina Steindl, Annick Toutain, et al.
Orphanet Journal of Rare Diseases|June 13, 2015
ALG8-CDG: novel patients and review of the literatureMichaela Höck, Karina Wegleiter, Elisabeth Ralser, et al.
Scientific Reports|June 4, 2020
Targeted metabolomic analysis of serum amino acids in the adult Fontan patient with a dominant left ventricleMiriam Michel, Karl-Otto Dubowy, Andreas Entenmann, et al.
Pageof 13

Showing results (71-80 of 129) with videos related to

Sort By:
Pageof 13
Journal of Inherited Metabolic Disease|April 25, 2012
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patientsElisabeth Sterl, Karl Paul, Eduard Paschke, et al.
Orphanet Journal of Rare Diseases|March 28, 2026
A suspicion index tool to aid the diagnosis and treatment of ASMDAnna-Maria Wiesinger, Georg Zimmermann, Wanda Lauth, et al.
Molecular Genetics and Metabolism|June 4, 2021
Project "Backtoclinic I": An overview on the state of care of adult PKU patients in AustriaMarianna Beghini, Felix J Resch, Dorothea Möslinger, et al.
JIMD Reports|March 2, 2017
Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of MetabolismNina A Zeltner, Matthias R Baumgartner, Aljona Bondarenko, et al.
Journal of Inherited Metabolic Disease|March 18, 2015
Spectrum of combined respiratory chain defectsJohannes A Mayr, Tobias B Haack, Peter Freisinger, et al.
Wiener Medizinische Wochenschrift (1946)|March 18, 2026
[Transition and transfer from pediatrics to adult medicine]Valentina Obermayr, Ingrid Pichler, Dorothea Appelt, et al.
Metabolites|December 23, 2021
Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan SyndromeLisa Bartenbach, Thomas Karall, Jakob Koch, et al.
American Journal of Medical Genetics. Part A|November 7, 2015
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2Christine Fauth, Katharina Steindl, Annick Toutain, et al.
Orphanet Journal of Rare Diseases|June 13, 2015
ALG8-CDG: novel patients and review of the literatureMichaela Höck, Karina Wegleiter, Elisabeth Ralser, et al.
Scientific Reports|June 4, 2020
Targeted metabolomic analysis of serum amino acids in the adult Fontan patient with a dominant left ventricleMiriam Michel, Karl-Otto Dubowy, Andreas Entenmann, et al.
Pageof 13