Yazar "Thomas, Sophie" için Cerrahi Tıp Bilimleri Bölümü Makale Koleksiyonu listeleme
Toplam kayıt 2, listelenen: 1-2
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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; Scarpa, Maurizio (2019)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 ... -
Recommendations For The Management Of Mps Vi: 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; Scarpa, Maurizio (2019)Introduction Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity ...