A rare disease: Mucopolysaccharidosis type 6 and cardiac involvement: Case Report [Nadir Görölen Bir Hastalik: Mukopolisakkaridoz Tip 6 ve Kalp Tutulumu]
| dc.contributor.author | Gövenç O. | |
| dc.contributor.author | Çimen D. | |
| dc.contributor.author | Arslan D. | |
| dc.contributor.author | Aslan E. | |
| dc.contributor.author | Oran B. | |
| dc.date.accessioned | 2020-03-26T19:08:00Z | |
| dc.date.available | 2020-03-26T19:08:00Z | |
| dc.date.issued | 2015 | |
| dc.department | Selçuk Üniversitesi | en_US |
| dc.description.abstract | Mucopolysaccharidosis type 6, also known as Maroteaux-Lamy syndrome, is a rare, multisystemic, progressive disease characterized by somatic involvement of varying severity and normal intelligence. N-Acetylgalactosamine-4-sulfatase enzyme is lacking and disfunction at cell, tissue, and organ levels occurs due to dermatan sulfate accumulation. Besides the findings such as coarse facial appearance, hydrocephalus, dysostosis multiplex, corneal opacity, hepatosplenomegaly, and joint stiffness, cardiac involvement is also frequently observed. Valvular heart disease, cardiomyopathy, and arrhythmia may occur in patients. In this article, we presented and discussed a mucopolysaccharidosis type 6 patient having moderate mitral valve regurgitation together with dextrocardia as a case in the light of recent literature. © Copyright 2015 by Turkiye Klinikleri. | en_US |
| dc.identifier.doi | 10.5336/pediatr.201547228 | en_US |
| dc.identifier.endpage | 172 | en_US |
| dc.identifier.issn | 1300-0381 | en_US |
| dc.identifier.issue | 4 | en_US |
| dc.identifier.scopusquality | Q4 | en_US |
| dc.identifier.startpage | 169 | en_US |
| dc.identifier.uri | https://dx.doi.org/10.5336/pediatr.201547228 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12395/32756 | |
| dc.identifier.volume | 24 | en_US |
| dc.indekslendigikaynak | Scopus | en_US |
| dc.language.iso | tr | en_US |
| dc.publisher | Turkiye Klinikleri | en_US |
| dc.relation.ispartof | Turkiye Klinikleri Pediatri | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.selcuk | 20240510_oaig | en_US |
| dc.subject | Child | en_US |
| dc.subject | Heart valve diseases | en_US |
| dc.subject | Mucopolysaccharidosis VI | en_US |
| dc.title | A rare disease: Mucopolysaccharidosis type 6 and cardiac involvement: Case Report [Nadir Görölen Bir Hastalik: Mukopolisakkaridoz Tip 6 ve Kalp Tutulumu] | en_US |
| dc.type | Article | en_US |
