Publication: Mucopolysachharidosis-II: A Rare Case Report
| creativeworkseries.issn | ISSN 2091-0231 eISSN 2091-167X | |
| dc.contributor.author | Baxi, Kalgi | |
| dc.contributor.author | Jagati, Ashish | |
| dc.contributor.author | Agarwal, Pooja | |
| dc.date.accessioned | 2025-08-25T10:51:02Z | |
| dc.date.available | 2025-08-25T10:51:02Z | |
| dc.date.issued | 2020 | |
| dc.description | Kalgi Baxi GCS medical college ahmedabad, Gujarat Ashish Jagati Shardaben hospital and NHL medical college Ahmedabad, Gujarat Pooja Agarwal Shardaben Hospital,NHL medical hospital, Ahmedabad, Gujurat | |
| dc.description.abstract | Abstract: Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an accumulation of incompletely degraded mucopolysaccharides in the lysosomes which affect various body systems through enzymatic activity. We present a case of mucopolysaccharidosis type II with hallmark cutaneous features, mild mental retardation associated with radiological changes. Keywords: Glycosaminoglycans, Iduronic Acid, Lysosomes, Mucopolysaccharidosis II | |
| dc.identifier | https://doi.org/10.3126/njdvl.v18i1.25996 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/2046 | |
| dc.language.iso | en_US | |
| dc.publisher | Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON) | |
| dc.title | Mucopolysachharidosis-II: A Rare Case Report | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 82 | |
| oaire.citation.startPage | 80 | |
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