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

• Main Authors: Na Hee Lee (Author), Sung Yoon Cho (Author), Se Hyun Maeng (Author), Tae Yeon Jeon (Author), Young Bae Sohn (Author), Su Jin Kim (Author), Hyung-Doo Park (Author), Dong Kyu Jin (Author)
• Format: Book
• Published: Korean Pediatric Society, 2012-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

PurposeMucopolysaccharidosis 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...