Abstract
Sanfilippo disease is a type of Mucopolysaccharidosis, a hereditary progressive disease caused by mutation of gene for degradation of acid mucopolysaccharides. Early detection of this rare disease would enable screening and genetic counseling for asymptomatic family members.
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APA
Barik, K. L., Kumar, P., Ghosh, T. N., De, S., & Basu, S. (2012). Sanfilippo disease. Journal of Nepal Paediatric Society, 32(3), 263–265. https://doi.org/10.3126/jnps.v32i3.6117
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