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Sly syndrome : ウィキペディア英語版
Sly syndrome

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.
It was named after its discoverer William S. Sly (1932-), an American Biochemist, in 1969 who has spent nearly his entire academic career at Saint Louis University.
==Genetics==

The defective gene responsible for Sly syndrome is located on chromosome 7.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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