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词汇 Type I tyrosinemia
分类 英语词汇 英语翻译词典
释义

Type I tyrosinemia

英语百科

Type I tyrosinemia

Pathophysiology of metabolic disorders of tyrosine, resulting in elevated levels of tyrosine in blood.

Type 1 Tyrosinemia, also known as hepatorenal tyrosinemia, is the most severe form of Tyrosinemia, an inability to metabolize Tyrosine. It is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase.

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