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词汇 Salla disease
分类 英语词汇 英语翻译词典
释义

Salla disease

英语百科

Salla 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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