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  1. Article

    Open Access

    Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II

    Mucopolysaccharidosis type II (MPS II, Hunter syndrome), is caused by a deficiency of iduronate-2-sulfatase (IDS). Despite the therapeutic effect of intravenous enzyme replacement therapy (ERT), the central ne...

    Sung Yoon Cho, Jeehun Lee, Ah-Ra Ko, Min Jung Kwak… in Orphanet Journal of Rare Diseases (2015)

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  2. Article

    Open Access

    Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome

    Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of alpha-L-iduronidase (IDUA), which is involved in the degradation of glycosaminoglycans (GAGs), such as heparan sulfate and dermatan sulfate i...

    Chihwa Kim, Min Jung Kwak, Sung Yoon Cho, Ah-ra Ko… in Orphanet Journal of Rare Diseases (2015)

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  3. Article

    Open Access

    Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)

    Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS). In affected patients, glycosaminoglycan (GAG) accumulat...

    Young Bae Sohn, Sung Yoon Cho, Sung Won Park… in Orphanet Journal of Rare Diseases (2013)

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