Sanfilippo Disease

Authors

  • 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

DOI:

https://doi.org/10.3126/jnps.v32i3.6117

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

Downloads

Download data is not yet available.
Abstract
751
PDF
650

Author Biography

Prabhat Kumar, MDPG Trainee, Department of Paediatrics, Burdwan Medical Hospital, Burdwan

Downloads

Published

2013-02-24

How to Cite

Barik, K. L., Kumar, P., Ghosh, T. N., De, S., & Basu, S. (2013). Sanfilippo Disease. Journal of Nepal Paediatric Society, 32(3), 263–265. https://doi.org/10.3126/jnps.v32i3.6117

Issue

Vol. 32 No. 3 (2012)

Section

Brief Reports/Case Reports/Case Series

License

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).