- Changes in Glycogen and Glycosaminoglycan Levels in Hepatocytes of Iduronate-2-Sulfatase Knockout Mice before and after Recombinant Iduronate-2-Sulfatase Supplementation
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Lee JH, Choe YH, Kim SJ, Paik KH, Jin DK
- KMID: 1779661
- Yonsei Med J.
- 2011 Mar;52(2):263-267.
- doi: 10.3349/ymj.2011.52.2.263
PURPOSE: Mucopolysaccharidosis II (MPS II) is a lysosomal storage disorder caused by a deficiency of iduronate-2 sulfatase (IdS), which is involved in the degradation of glycosaminoglycan (GAG). In this study,... -
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- A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients
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Lee OJ, Kim SJ, Sohn YB, Park HD, Lee SY, Kim CH, Ko AR, Yook YJ, Lee SJ, Park SW, Kim SH, Cho SY, Kwon EK, Han SJ, Jin DK
- KMID: 2284314
- Korean J Pediatr.
- 2012 Mar;55(3):88-92.
- doi: 10.3345/kjp.2012.55.3.88
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... -
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- A case of simultaneously identified glycogen storage disease and mucopolysaccharidosis
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Lee JY, Shim JO, Yang HR, Chang JY, Shin CH, Ko JS, Seo JK, Kim WS, Kang GH, Song JH, Kim JW
- KMID: 2280303
- Korean J Pediatr.
- 2008 Jun;51(6):650-654.
- doi: 10.3345/kjp.2008.51.6.650
Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation... -
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- Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)
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Cho SY, Huh R, Chang MS, Lee J, Kwun Y, Maeng SH, Kim SJ, Sohn YB, Park SW, Kwon EK, Han SJ, Jung J, Jin DK
- KMID: 1789984
- J Korean Med Sci.
- 2014 Feb;29(2):254-260.
- doi: 10.3346/jkms.2014.29.2.254
Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme... -
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