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单词 Infantile Refsum Disease
释义
Infantile Refsum Disease
  • 翻译

婴儿复核病

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  • 英英释义
  • abstract:
    • 1

      Infantile Refsum disease (IRD), also called infantile phytanic acid storage disease, is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum. These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with mutations in the PEX family of genes.

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更新时间:2025/8/6 17:11:28