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单词 Mucopolysaccharidosis VII
释义

Mucopolysaccharidosis VII

英语百科

Sly syndrome

(重定向自Mucopolysaccharidosis VII)
Sly syndrome has an autosomal recessive pattern of inheritance.

Sly syndrome, also called Mucopolysaccharidosis Type VII or MPS, is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme β-glucuronidase, a lysosomal enzyme. Sly syndrome belongs to a group of disorders known as mucopolysaccharidoses, which are lysosomal storage diseases. In Sly syndrome, the deficiency in β-glucuronidase leads to the accumulation of certain complex carbohydrates (mucopolysaccharides) in many tissues and organs of the body.

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