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单词 Alpha Mannosidosis
释义

Alpha Mannosidosis

英语百科

Alpha-mannosidosis

Electron micrograph of a vacuolated lymphocyte. Electron micrograph of a vacuolated lymphocyte from a mannosidosis patient (A) as compared to a lymphocyte from a normal control (B).
Facial features in alpha-mannosidosis. A. Twins aged 18 Months. Note enlarged head, short neck, rounded eyebrows, saddle nose, and prominent forehead. B. Same twins aged 8 years. Note slight muscular atrophy of the hands. C. Boy, aged 27. Note: Hearing aid.
Alpha-mannosidosis has an autosomal recessive pattern of inheritance.

Alpha-mannosidosis is a lysosomal storage disorder caused by deficient activity of the enzyme alpha-D-mannosidase. In humans it is known to be caused by an autosomal recessive genetic mutation. In livestock it is caused by chronic poisoning with swainsonine from locoweed.

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更新时间:2025/6/23 10:03:33