- 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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