RESEARCH ACTIVITIES AND INTERESTS
-Molecular and enzymatic characterization of the congenital disorders of glycosylation
-Differences in the glycosylation pathway among primates

EDUCATION
2006: IPATIMUP- PhD fellowship
2000-2004: Faculty of Sciences, University of Porto- Graduation in Biology

RECENT PUBLICATIONS
Quental R, Azevedo L, Diogo L, Rubio V, Amorim A.
Molecular mechanisms underlying large genomic deletions in Ornithine Transcarbamylase (OTC) gene.
Clinical Genetics. 2009 75(5):457-64.

Quelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L.
Congenital Disorder of Glycosylation type Ia: searching the origins of common mutations in PMM2.
Annals of Human Genetics. 2007. 71:348-53.

Azevedo L, Soares PA, Quental R, Vilarinho L, Teles EL, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A.
Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).
Annals Hum Genet. 2007. 70:797-801.

Quental R, Coelho M, Rocha J.
Bio-cultural adaptation: tracing the signatures of natural selection in human evolutionary responses to major changes in subsistence economy.
Proceedings of the 13th Intl. Congress on Genes, Gene Families and Isozymes (2005)