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A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases
Leadley RM, Lang S,
Misso K
, Bekkering T, Ross J, Akiyama T, et al.
Orphanet J Rare Dis
, 2014;9:173.
PMID: 25404155
DOI:
10.1186/s13023-014-0173-x
Abstract
Morquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifespan.
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