α-氨基己二酸半醛是由α-氨基己二酸半醛脱氢酶缺乏引起的吡哆醇依赖性癫痫的生物标志物。 - Suppr

Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency.

作者信息

Struys Eduard A, Jakobs C

出版信息

Mol Genet Metab. 2007 Aug;91(4):405. doi: 10.1016/j.ymgme.2007.04.016. Epub 2007 Jun 8.

DOI:10.1016/j.ymgme.2007.04.016

PMID:17560822

Abstract

摘要

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Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency.

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Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency.

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