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

Abstract


DOI: 10.3969/j.issn.1672⁃6731.2023.09.009

Keywords


Metabolism, inborn errors; Serine; Genes; Mutation; Case reports

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