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
About this item
Full title
Author / Creator
MPS Consensus Programme Steering Committee , MPS Consensus Programme Co-Chairs , 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 and Scarpa, Maurizio
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 multiple clinical manifestations of MPS IVA present numerous challenges...
Alternative Titles
Full title
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
Authors, Artists and Contributors
Author / Creator
MPS Consensus Programme Co-Chairs
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_07788539a8b74b2fa1444bee0867e560
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_07788539a8b74b2fa1444bee0867e560
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-019-1074-9
