Department of Pediatrics and Adolescent Medicine (Division of Pediatric Pulmonology, Allergology and Endocrinology)
Position: Assistant Professor
ORCID: 0000-0001-7472-6670
T +43 1 40400 19278
dorothea.moeslinger@meduniwien.ac.at
Keywords
Amino Acid Metabolism, Inborn Errors
Research interests
We are involved in Clinical Research of all areas of inborn errors of metabolism with special interest in Aminoacodopathies, Organoacidurias, Fatty acid oxidation defects, Disorders of Carbohydrate Metabolism and Lysososmal Storage disorders. .Additionally we are involved in newborn screening for metabolic and endocrine disorders and expanding pilot projects like SCIDD , SMA and others
Techniques, methods & infrastructure
Newborn Screening Laboratory ( Tandem Mass Spectrometry ) and Selective Metabolic Diagnostic laboratory ( organic acids in urine, Aminoacids, Acylcarnitine Profiles , u.a.)
Selected publications
- Derks, B. et al. (2022) ‘Galactose epimerase deficiency: lessons from the GalNet registry’, Orphanet Journal of Rare Diseases, 17(1). Available at: http://dx.doi.org/10.1186/s13023-022-02494-4.
- Siegert, S. et al. (2021) ‘Risk factors for impaired health-related quality of life in a cohort of pediatric patients with inborn metabolic diseases’, European Journal of Pediatrics, 181(3), pp. 1063–1070. Available at: http://dx.doi.org/10.1007/s00431-021-04300-y.
- Beghini, M. et al. (2021) ‘Project “Backtoclinic I”: An overview on the state of care of adult PKU patients in Austria’, Molecular Genetics and Metabolism, 133(3), pp. 257–260. Available at: http://dx.doi.org/10.1016/j.ymgme.2021.05.003.
- Herle, M. et al. (2021) ‘A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria’, Orphanet Journal of Rare Diseases, 16(1). Available at: http://dx.doi.org/10.1186/s13023-021-01996-x.
- Löscher, W.N. et al. (2017) ‘Pompe disease in Austria: clinical, genetic and epidemiological aspects’, Journal of Neurology, 265(1), pp. 159–164. Available at: http://dx.doi.org/10.1007/s00415-017-8686-6.