Browsing Biological Sciences by Author "Fachin, Ana Carolina Brusius"

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    • 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) [Journal article]
      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 ...