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Autosomal recessive peroxisomal disorder due to a deficiency in phytanic acid oxidation, which results in accumulation of phytanic acid in plasma and tissues.

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Inborn Errors of Metabolism: Refsum Disease

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  • 发表日期：

    2025年

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  • Sitara Hirji,
  • Stephen Tsang,
  • Tarun Sharma,
  • Vlad Diaconita

摘要

Autosomal recessive peroxisomal disorder due to a deficiency in phytanic acid oxidation, which results in accumulation of phytanic acid in plasma and tissues.