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词汇 San filippo syndrome
分类 英语词汇 英语翻译词典
释义

San filippo syndrome

英语百科

Sanfilippo syndrome

(重定向自San filippo syndrome)
Sanfilippo syndrome has an autosomal recessive pattern of inheritance.

Sanfilippo syndrome, or mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal storage disease. It is caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate (which is found in the extra-cellular matrix and on cell surface glycoproteins).

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