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

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

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...

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Bibliographic Details
Main Authors: Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin
Format: Article
Language:English
Published: Korean Pediatric Society 2012-11-01
Series:Korean Journal of Pediatrics
Subjects:
Mucopolysaccharidosis IVA
Atlantoaxial subluxation
Morquio A syndrome
Online Access:http://kjp.or.kr/upload/pdf/kjped-55-430.pdf

Internet

http://kjp.or.kr/upload/pdf/kjped-55-430.pdf

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