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

PURPOSE: Mucopolysaccharidosis 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 fibrobla...

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Detalles Bibliográficos
Autores principales: Lee, Ok Jeong, Kim, Su-Jin, Sohn, Young Bae, Park, Hyung-Doo, Lee, Soo-Youn, Kim, Chi-Hwa, Ko, Ah-Ra, Yook, Yeon-Joo, Lee, Su-Jin, Park, Sung Won, Kim, Se-Hwa, Cho, Sung-Yoon, Kwon, Eun-Kyung, Han, Sun Ju, Jin, Dong-Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2012
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315624/
https://www.ncbi.nlm.nih.gov/pubmed/22474463
http://dx.doi.org/10.3345/kjp.2012.55.3.88

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315624/
https://www.ncbi.nlm.nih.gov/pubmed/22474463
http://dx.doi.org/10.3345/kjp.2012.55.3.88

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