Browsing by Subject "N-acetylgalactosamine-6-sulfatase (GALNS)"

Browsing by Subject "N-acetylgalactosamine-6-sulfatase (GALNS)"

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  • Recommendations for the management of MPS IVA : systematic evidence- and consensus-based guidance 
    Akyol, Mehmet Umut; Alden, Tord D.; Amartino, Hernan; Ashworth, Jane; Belani, Kumar; Berger, Kenneth I.; Borgo, Andrea; Braunlin, Elizabeth; Eto, Yoshikatsu; Gold, Jeffrey I.; Jester, Andrea; Jones, Simon A.; Karsli, Cengiz; Mackenzie, William; Marinho, Diane Ruschel; McFadyen, Andrew; McGill, Jim; Mitchell, John J.; Muenzer, Joseph; Okuyama, Torayuki; Orchard, Paul J.; Stevens, Bob; Thomas, Sophie; Walker, Robert; Wynn, Robert; Giugliani, Roberto; Harmatz, Paul; Hendriksz, Christian J.; Scarpa, Maurizio (BioMed Central (BMC), 2019-06)
    INTRODUCTION: Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs ...