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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

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