Maroteaux-Lamy disease

An autosomal recessive condition (OMIM:253200) caused by arylsulfatase B deficiency.
Clinical findings
Coarse facies, corneal clouding, progressive dysostosis multiplex, hepatomegaly.

Management
Bone transplant; enzyme replacement therapy with galsulfase (Naglazyme) improves growth and joint movement, but is extremely expensive ($350K/year).

Maroteaux-Lamy disease

Mucopolysaccharidosis VI, arylsulfatase B deficiency Metabolic disease An AR condition caused by arylsulfatase deficiency Clinical Coarse facies, corneal clouding, progressive dysostosis multiplex, hepatomegaly Management BM transplant. See Gargoyle.

单词	maroteaux-lamy disease
释义	Maroteaux-Lamy disease Maroteaux-Lamy disease An autosomal recessive condition (OMIM:253200) caused by arylsulfatase B deficiency. Clinical findings Coarse facies, corneal clouding, progressive dysostosis multiplex, hepatomegaly. Management Bone transplant; enzyme replacement therapy with galsulfase (Naglazyme) improves growth and joint movement, but is extremely expensive ($350K/year). Maroteaux-Lamy disease Mucopolysaccharidosis VI, arylsulfatase B deficiency Metabolic disease An AR condition caused by arylsulfatase deficiency Clinical Coarse facies, corneal clouding, progressive dysostosis multiplex, hepatomegaly Management BM transplant. See Gargoyle.
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