LABORATORY OF INBORN ERRORS OF
The Laboratory of Inborn Errors of Metabolism (LABEIM) is a multidisciplinary laboratory, reference in diagnosis and research of metabolic diseases in the State of Rio de Janeiro. Created in 1988, it works in the areas of Chemistry, Biochemistry and Clinical Genetics. It is one of the few laboratories in Brazil that performs analyses of 7-dehydrocholesterol (Smith-Lemli Opitz Syndrome) and organic acids (organic acidurias), being the only one in the country that quantifies the tetraglucoside (Pompe disease) and pterins (atypical Phenylketonuria). The laboratory serves mainly the low-income population and receives samples from most state hospitals.
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Maria Lúcia Costa de Oliveira
Maria Lúcia Costa de Oliveira, Industrial Chemist, Master of Science (MS) and Doctor (PhD) at the Biochemistry Postgraduation (PG) Program of the Federal University of Rio de Janeiro (UFRJ). Retired Adjunct Professor in the Biochemistry Department, Chemistry Institute, UFRJ. Co-orientation of Master’s Dissertations and Doctoral Theses, besides orientation of numerous works of Scientific Initiation and Course Conclusion in Biochemistry. Has been awarded 12 tributes at the Chemistry Institute between 1987 and 1998, and the Mathematical Sciences and Nature Center’s prize for Academic Excellence in 2008. Responsible for the Laboratory of Inborn Errors of Metabolism (LABEIM) since 1986, coordinating numerous research and extension projects in this area.
Fernanda Bertão Scalco
Adjunct Professor in the Biochemical Department, Chemistry Institute, at the Federal University of Rio de Janeiro (UFRJ). Graduated in Biological Sciences at the Pontifícia Universidade Católica do Rio Grande do Sul (1992). Master’s degree in Biological Sciences (Biochemistry), Universidade Federal do Rio Grande do Sul (1995); PhD in Biological Sciences (Genetics), Universidade Estadual Paulista Julio de Mesquita Filho (2002). Postdoc in Molecular Biology, National Institute of Health (2004).