Article: Sanfilippo Disease
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.
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
Citation
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