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单词 Mucolipidosis I
释义

Mucolipidosis I

英语百科

Sialidosis

(重定向自Mucolipidosis I)

Mucolipidosis type I (ML I) or sialidosis is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids. Both of these substances accumulate in bodily tissues.

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更新时间:2025/6/23 13:53:40