- 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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