Sanfilippo Disease

  • Kanal Lal Barik Associate Professor, Department of Paediatrics, Burdwan Medical Hospital, Burdwan
  • Prabhat Kumar MDPG Trainee, Department of Paediatrics, Burdwan Medical Hospital, Burdwan
  • Tark Nath Ghosh Associate Professor, Department of Paediatrics, Burdwan Medical Hospital, Burdwan
  • Sangita De PG Trainee, Department of Paediatrics, Burdwan Medical Hospital, Burdwan
  • Samit Basu MDPG Trainee, Department of Paediatrics, Burdwan Medical Hospital, Burdwan
Keywords: Sanfilippo, Mucopolysachharides

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.

DOI: http://dx.doi.org/10.3126/jnps.v32i3.6117

J. Nepal Paediatr. SocVol.32(3) 2012 263-265

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Author Biography

Prabhat Kumar, MDPG Trainee, Department of Paediatrics, Burdwan Medical Hospital, Burdwan
Published
2013-02-24
How to Cite
Barik, K., Kumar, P., Ghosh, T., De, S., & Basu, S. (2013). Sanfilippo Disease. Journal of Nepal Paediatric Society, 32(3), 263-265. https://doi.org/10.3126/jnps.v32i3.6117
Section
Brief Reports/Case Reports/Case Series