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Original Article

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

Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin

Clin Exp Pediatr. 2012;55(11):430-437. Published online November 23, 2012

Crossref 10

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 findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for...

DOI: https://doi.org/10.3345/kjp.2012.55.11.430

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