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

• Autori principali: Na Hee Lee (Autore), Sung Yoon Cho (Autore), Se Hyun Maeng (Autore), Tae Yeon Jeon (Autore), Young Bae Sohn (Autore), Su Jin Kim (Autore), Hyung-Doo Park (Autore), Dong Kyu Jin (Autore)
• Natura: Libro
• Pubblicazione: Korean Pediatric Society, 2012-11-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...