Dr. Ana Carolina Breier is a Clinical Researcher and has been working in the health science field since 2005, with expertise in screening using dried blood spots for Lysosomal Diseases, diagnosis of Mucopolysaccharidoses (MPS) and Gangliosides. She graduated in Pharmacy from the Federal University of Rio Grande do Sul - UFRGS, (2008), with emphasis in Clinical Analysis (2009), Brazil. She has a Master's degree applied by the Post-Graduation Program in Biological Science: Biochemistry from the same university UFRGS (2010) and concluded her Doctor's degree in Biological Sciences: Biochemistry from UFRGS (2014), in the Lysosomal Storage Diseases Laboratory. Among several scientific publications and international congress participations in biochemistry and genetics, her most notable achievement was the development of a glycosaminoglycans measurement in dried urine with the use of filter paper for MPS patients, which may be applied as a replacement of urine samples in neonatal screening and monitoring therapies, provided the ease transportation and storage experienced with the mentioned process. Currently, she continues working in collaboration with the same laboratory.
Measurement of enzymatic activity; Neonatal screening; MPS diagnosis.