- Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
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Kim JH, Chi YH, Kim GH, Yoo HW, Lee JH
- KMID: 2362251
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S37-S40.
- doi: 10.3345/kjp.2016.59.11.S37
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... -
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- Clinical and Laboratory Features of Korean Mucopolysaccharidoses (MPSs)
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Sohn WY, Lee JH, Paik KH, Kwon EK, Kim AH, Jin DK
- KMID: 2279075
- Korean J Pediatr.
- 2005 Oct;48(10):1132-1138.
PURPOSE: The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is... -
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- The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation
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Huh HJ, Seo JY, Cho SY, Ki CS, Lee SY, Kim JW, Park HD, Jin DK
- KMID: 1781302
- Ann Lab Med.
- 2013 Jan;33(1):75-79.
- doi: 10.3343/alm.2013.33.1.75
Mucopolysaccharidosis (MPS) III has 4 enzymatically distinct forms (A, B, C, and D), and MPS IIIC, also known as Sanfilippo C syndrome, is an autosomal recessive lysosomal storage disease caused... -
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- A Novel Mutation (c.200T>C) in the NAGLU Gene of a Korean Patient with Mucopolysaccharidosis IIIB
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Kim YE, Park HD, Jang MA, Ki CS, Lee SY, Kim JW, Cho SY, Jin DK
- KMID: 1781332
- Ann Lab Med.
- 2013 May;33(3):221-224.
- doi: 10.3343/alm.2013.33.3.221
Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disorder (LSD) caused by abnormalities of the enzyme alpha-N-acetylglucosaminidase (NAGLU) that is required for degradation of heparan sulfate. The patient in this study... -
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