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di ferrante syndrome
释义
Di Ferrante syndrome
Di Fer·ran·te syn·drome
[MIM*253230]
disorder associated with a deficiency of
N
-acetylglucosamine 6-sulfatase and urinary excretion of heparan sulfate and keratan sulfate.
Synonym(s): mucopolysaccharidosis type VII (2)
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更新时间:2024/12/22 20:46:36