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苯丙酮尿症
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苯丙酮尿症
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医学
苯丙酮尿症
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phenylketonuria,PKU
苯丙酮尿症
由于苯丙氨酸(PA)代谢途径中的酶缺陷,使得苯丙氨酸不能转变成为酪氨酸,导致苯丙氨酸及其酮酸蓄积,并从尿中大量排出的一种常见的氨基酸代谢病。
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