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

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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Morquio a syndrome
Mucopolysaccharidosis
MPS IVA
Management guidelines
Elosulfase alfa
VIMIZIM
Online Access:http://link.springer.com/article/10.1186/s13023-019-1074-9

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http://link.springer.com/article/10.1186/s13023-019-1074-9

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