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单词 Sialic acid storage disease
释义

Sialic acid storage disease

英语百科

Salla disease

(重定向自Sialic acid storage disease)
Salla disease has an autosomal recessive pattern of inheritance.

Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal recessive lysosomal storage disease characterized by early physical impairment and mental retardation. It was first described in 1979, after Salla, a municipality in Finnish Lapland. Salla disease is one of 40 Finnish heritage diseases and affects approximately 130 individuals, mainly from Finland and Sweden.

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更新时间:2025/6/17 13:10:33