Mucopoly saccharidosis type maroteaux-lamy, a case report

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.

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Official URL: http://jmums.mazums.ac.ir/article-1-188-en.html

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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