Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Abstract 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 lysosomal degradation of keratan sulphate and chondroitin-6-sulphate. The...

وصف كامل

التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	BMC 2019-06-01
سلاسل:	Orphanet Journal of Rare Diseases
الموضوعات:	Morquio a syndrome Mucopolysaccharidosis MPS IVA Management guidelines Elosulfase alfa VIMIZIM
الوصول للمادة أونلاين:	http://link.springer.com/article/10.1186/s13023-019-1074-9
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!