Mojtahedzadeh, F and Rashidighader, F and Alaee, A.R and Tale, A (2007) Mucopoly saccharidosis type maroteaux-lamy, a case report. Journal of Mazandaran University of Medical Sciences, 16 (56). pp. 136-142.
Full text not available from this repository.Abstract
Mucopolysaccharidosis type maroteaux-lamy is a very rare hereditary disease. The disease is marked by the deficiency of the lysosomal enzyme N-Acetyl galactosamine-a-4-sulfate sulfatase (arylsulfatase B). It is inherited as an autosomal recessive trait. The most clinical manifestations are: corneal clouding, organomegaly, hernias, coarse facial features, cardiac insufficiency and skeletal abnormalities (dysostosis multiplex). The mental performance remains relatively normal. This is a case report of a child with clinical manifestations of mucopolysaccharidosis type maroteaux-lamy.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Metabolic disorders, mucopolysaccharidosis type maroteaux-lamy |
| Depositing User: | Unnamed user with email eprints@mazums.ac.ir |
| Date Deposited: | 04 Jan 2018 17:54 |
| Last Modified: | 04 Jan 2018 17:54 |
| URI: | http://eprints.mazums.ac.ir/id/eprint/3156 |
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