Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA

PURPOSE: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findin...

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Autori principali: Lee, Na Hee, Cho, Sung Yoon, Maeng, Se Hyun, Jeon, Tae Yeon, Sohn, Young Bae, Kim, Su Jin, Park, Hyung-Doo, Jin, Dong Kyu
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Pediatric Society 2012
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3510273/
https://ncbi.nlm.nih.gov/pubmed/23227063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2012.55.11.430
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