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N-乙酰谷氨酸合成酶缺乏所致高氨血症

ORPHA:927· ICD-10 E72.2· Hyperammonemia due to N-acetylglutamate synthase deficiency

患病率
<1 / 1 000 000
遗传方式
Autosomal recessive
发病年龄
All ages