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单词 ASL deficiency
释义

ASL deficiency

英语百科

Adenylosuccinate lyase deficiency

(重定向自ASL deficiency)
Adenylosuccinate lyase deficiency has an autosomal recessive pattern of inheritance.

Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is a rare autosomal recessive metabolic disorder characterized by the appearance of succinylaminoimidazolecarboxamide riboside (SAICA riboside) and succinyladenosine (S-Ado) in cerebrospinal fluid, urine, and to a lesser extent in plasma.

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更新时间:2025/6/17 14:49:06