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重大突破!早期极易误诊的急性间歇性卟啉病深度剖析:精准诊断与 ...
这些诱发因素会促使 δ- 氨基乙酰丙酸合酶 1(δ-aminolevulinic acid synthase 1,ALAS1)合成增加,ALAS1 是血红素生物合成途径的第一个限速酶。当肝脏中 ALAS1 被诱导后,HMBS 的缺乏成为肝脏血红素生物合成的限速步骤,致使具有潜在神经毒性的卟啉前体氨基乙酰丙酸 ...
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