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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 DOI: https://doi.org/10.3345/kjp.2012.55.11.430 |
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA Erratum: Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA Role of elosulfase alfa in mucopolysaccharidosis IVA Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA Beta glucuronidase deficiency: Report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype Achondroplasia The histological and ultrastructural features of the epiphyseal plate in morquio type a syndrome (Mucopolysaccharidosis type IVA) |