Diagnosing mucopolysaccharidosis IVA

Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findin...

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Détails bibliographiques
Auteurs principaux: Wood, Timothy C., Harvey, Katie, Beck, Michael, Burin, Maira Graeff, Chien, Yin-Hsiu, Church, Heather J., D’Almeida, Vânia, van Diggelen, Otto P., Fietz, Michael, Giugliani, Roberto, Harmatz, Paul, Hawley, Sara M., Hwu, Wuh-Liang, Ketteridge, David, Lukacs, Zoltan, Miller, Nicole, Pasquali, Marzia, Schenone, Andrea, Thompson, Jerry N., Tylee, Karen, Yu, Chunli, Hendriksz, Christian J.
Format: Artigo
Langue:Inglês
Publié: Springer Netherlands 2013
Sujets:
Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3590423/
https://ncbi.nlm.nih.gov/pubmed/23371450
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-013-9587-1
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