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  • Silvia Paciotti, Emanuele Persichetti, +11 authors Tommaso Beccari
  • Biology, Medicine
  • Clinica chimica acta; international journal of…
  • 2012 (First Publication: 1 November 2012)
  • We report the first newborn screening pilot study in an Italian region for four lysosomal disorders including Pompe disease, Gaucher disease, Fabry disease and mucopolysaccharidosis type 1. TheContinue Reading
  • Veronica Pagliardini, Severo Pagliardini, Lucia Corrado, Ausiliatrice Lucenti, Letizia Mazzini
  • Medicine
  • Journal of the Neurological Sciences
  • 2015 (First Publication: 15 January 2015)
  • The aim of this study was to determine if blood chitotriosidase (Chit) activity and lysosomal enzyme levels might represent markers of disease activity and progression in amyotrophic lateralContinue Reading