Yazar "Akyol, Mehmet Umut" için Cerrahi Tıp Bilimleri Bölümü Makale Koleksiyonu listeleme

Toplam kayıt 2, listelenen: 1-2

    • 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 ...