A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

BACKGROUND: 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. PURPOSE: To prepare a systematic review of the prevalence of Morquio A in...

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Detalles Bibliográficos
Autores principales: Leadley, Regina M, Lang, Shona, Misso, Kate, Bekkering, Trudy, Ross, Janine, Akiyama, Takeyuki, Fietz, Michael, Giugliani, Roberto, Hendriksz, Chris J, Hock, Ngu Lock, McGill, Jim, Olaye, Andrew, Jain, Mohit, Kleijnen, Jos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251694/
https://www.ncbi.nlm.nih.gov/pubmed/25404155
http://dx.doi.org/10.1186/s13023-014-0173-x

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