Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience

@inproceedings{Mller2010ReferenceVF,
  title={Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience},
  author={Karen Barbosa M{\"u}ller and Mayra D B Rodrigues and Vanessa Gonçalves Pereira and Ana M Martins and V{\~a}nia D'Almeida},
  booktitle={Diagnostic pathology},
  year={2010}
}
BACKGROUND Lysosomal storage diseases (LSD) are inherited disorders caused by deficiency of lysosomal enzymes in which early diagnosis is essential to provide timely treatment. This study reports interval values for the activity of lysosomal enzymes that are deficient in Mucopolysaccharidosis type I, Fabry, Gaucher and Pompe disease, using dried blood spots on filter paper (DBS) samples in a Brazilian population. RESULTS Reference activity values were obtained from healthy volunteers samples… CONTINUE READING