Publication: Sanfilippo Disease
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | Barik, Kanal Lal | |
| dc.contributor.author | Kumar, Prabhat | |
| dc.contributor.author | Ghosh, Tark Nath | |
| dc.contributor.author | De, Sangita | |
| dc.contributor.author | Basu, Samit | |
| dc.date.accessioned | 2026-05-25T08:27:53Z | |
| dc.date.available | 2026-05-25T08:27:53Z | |
| dc.date.issued | 2012 | |
| dc.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 | |
| dc.description.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. | |
| dc.identifier | https://doi.org/10.3126/jnps.v32i3.6117 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/6247 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Paediatric Society (JNPS) | |
| dc.subject | Sanfilippo | |
| dc.subject | Mucopolysachharides | |
| dc.title | Sanfilippo Disease | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 265 | |
| oaire.citation.startPage | 263 | |
| relation.isJournalIssueOfPublication | 0f36c4f0-f37c-4ede-9e94-8027b941bf2d | |
| relation.isJournalIssueOfPublication.latestForDiscovery | 0f36c4f0-f37c-4ede-9e94-8027b941bf2d | |
| relation.isJournalOfPublication | 6f9be05c-05a9-4a3e-a5b5-a19a15ab042c |