A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients

• Autores principales: Ok Jeong Lee (Autor), Su-Jin Kim (Autor), Young Bae Sohn (Autor), Hyung-Doo Park (Autor), Soo-Youn Lee (Autor), Chi-Hwa Kim (Autor), Ah-Ra Ko (Autor), Yeon-Joo Yook (Autor), Su-Jin Lee (Autor), Sung Won Park (Autor), Se-Hwa Kim (Autor), Sung-Yoon Cho (Autor), Eun-Kyung Kwon (Autor), Sun Ju Han (Autor), Dong-Kyu Jin (Autor)
• Formato: Libro
• Publicado: Korean Pediatric Society, 2012-03-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

PurposeMucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, which is measured in leukocyte pellets or fibroblast...