Publication: Sanfilippo Disease
Date
2012
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 263 - 265
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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.
Description
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
Identifier
https://doi.org/10.3126/jnps.v32i3.6117