Genetics Experts

Saskia B Wortmann

Department of Human Genetics
Paracelsus Medical University Salzburg


Dr. Saskia B Wortmann is affiliated to Department of Human Genetics, Paracelsus Medical University Salzburg. Dr. Saskia B Wortmann is currently providing services as lecturer. Dr. Saskia B Wortmann has authored and co-authored multiple peer-reviewed scientific papers and presented works at many national and International conferences. Dr. Saskia B Wortmann contributions have acclaimed recognition from honourable subject experts around the world. Dr. Saskia B Wortmann is actively associated with different societies and academies. Dr. Saskia B Wortmann academic career is decorated with several reputed awards and funding. Dr. Saskia B Wortmann research interests include AIDS, HIV, Pediatrics, Immunology.

Research Interest

AIDS, HIV, Pediatrics, Immunology


  • "Thiels C, Fleger M, Huemer M, Rodenburg RJ, Vaz FM,et al. (2016) Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? JIMD Rep 29:89-93."

  • "Rokicki D, Pajdowska M, Trubicka J, Thong MK, Ciara E, et al. (2017) 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. Clin Chim 471:95-100."

  • "Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, et al. (2017) Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. J Inherit Metab Dis 40: 423-431."

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