Volume 16, Issue 56 (Jan 2007)
J Mazandaran Univ Med Sci 2007, 16(56): 136-142 |
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Mojtahedzadeh F, Rashidi ghader F, Alaee A, Tale A. Mucopoly saccharidosis type maroteaux-lamy, a case report. J Mazandaran Univ Med Sci 2007; 16 (56) :136-142
URL: http://jmums.mazums.ac.ir/article-1-188-en.html
URL: http://jmums.mazums.ac.ir/article-1-188-en.html
Abstract: (28050 Views)
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.
Type of Study: Research(Original) |
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