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Genetics and Metabolism

Long-term clinical course of a patient with mucopolysaccharidosis type IIIB

Ja Hye Kim, Yang Hyun Chi, Gu-Hwan Kim, Han-Wook Yoo, Jun Hwa Lee

Clin Exp Pediatr. 2016;59(Suppl 1):S37-S40. Published online November 30, 2016

Crossref 4

Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S37

Original Article

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

Ok Jeong Lee, Su-Jin Kim, Young Bae Sohn, Hyung-Doo Park, Soo-Youn Lee, Chi-Hwa Kim, Ah-Ra Ko, Yeon-Joo Yook, Su-Jin Lee, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho, Eun-Kyung Kwon, Sun Ju Han, Dong-Kyu Jin

Clin Exp Pediatr. 2012;55(3):88-92. Published online March 16, 2012

Crossref 7

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 fibroblasts, was reported to be related to clinical phenotype by Sukegawa-Hayasaka et al. Measurement of residual plasma IDS...

DOI: https://doi.org/10.3345/kjp.2012.55.3.88

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