PSAT1基因变异致儿童期鱼鳞病合并青少年期周围神经病的磷酸丝氨酸氨基转移酶缺乏症一例
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Phosphoserine aminotransferase deficiency in childhood ichthyosis with adolescent peripheral neuropathy caused by PSAT1 gene mutation: one case report
Ping LI, Yan-fang XU, Shuai HU, Xiao-xia ZENG, Xue-liang QI
中国现代神经疾病杂志 . 2023, (9): 826 -831 .  DOI: 10.3969/j.issn.1672-6731.2023.09.009