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单词 Sanfilippo disease
释义

Sanfilippo disease

英语百科

Sanfilippo syndrome

(重定向自Sanfilippo disease)
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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