Chinese Journal of Contemporary Neurology and Neurosurgery ›› 2023, Vol. 23 ›› Issue (9): 826-831. doi: 10.3969/j.issn.1672-6731.2023.09.009

• Neuromuscular Disease: Case Report • Previous Articles     Next Articles

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*()   

  1. Department of Neurology, The Second Affiliated Hospital of Nanchang University, Nanchang 330006, Jiangxi, China
  • Received:2023-06-11 Online:2023-09-25 Published:2023-10-10
  • Contact: Xue-liang QI
  • Supported by:
    Natural Science Foundation of Jiangxi(20202BABL206050)

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

李萍, 徐艳芳, 胡帅, 曾晓霞, 漆学良*()   

  1. 330006 南昌大学第二附属医院神经内科
  • 通讯作者: 漆学良
  • 基金资助:
    江西省自然科学基金资助项目(20202BABL206050)

Key words: Metabolism, inborn errors, Serine, Genes, Mutation, Case reports

关键词: 代谢缺陷, 先天性, 丝氨酸, 基因, 突变, 病例报告