Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report
| Autor: | P Suryanarayana Raju, Ramesh Tatapudi, M Gunashekhar |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
medicine.medical_specialty
congenital hereditary and neonatal diseases and abnormalities Mucopolysaccharidosis Autosomal recessive Orthodontics Case Report Mucopolysaccharidosis type I Rare case Mucopolysaccharidosis I medicine Hurler syndrome skin and connective tissue diseases business.industry Hurler–Scheie syndrome iduronidase nutritional and metabolic diseases mucopolysaccharidosis medicine.disease Virology Dermatology eye diseases lcsh:RK1-715 lcsh:Dentistry Periodontics Oral Surgery business Iduronidase |
| Zdroj: | Contemporary Clinical Dentistry, Vol 2, Iss 1, Pp 66-68 (2011) Contemporary Clinical Dentistry |
| ISSN: | 0976-2361 |
| Popis: | Mucopolysaccharidosis I (MPS I) is a rare inherited disorder that belongs to a group of clinically progressive disorders and is caused by the deficiency of the lysosomal enzyme, α(1)-iduronidase. MPS I has been recently classified into a severe (Hurler syndrome) and an attenuated type (Hurler-Scheie and Scheie syndromes). The purpose of this article was to describe a rare case of MPS type I, attenuated type (Hurler-Scheie) affecting a 15-year-old Indian child. |
| Databáze: | OpenAIRE |
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