Navegação Ciências da Saúde por Autor "Fachin, Ana Carolina Brusius"
Resultados 1-1 de 1
-
Phenotype-oriented NGS panels for mucopolysaccharidoses : validation and potential use in the diagnostic flowchart
Fachin, Ana Carolina Brusius; Siebert, Marina; Leão, Delva Pereira; Málaga, Diana Elizabeth Rojas; Pasqualim, Gabriela; Trapp, Franciele Barbosa; Matte, Ursula da Silveira; Giugliani, Roberto; Leistner-Segal, Sandra (2019) [Artigo de periódico]Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of ...