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Wolman disease (WD) is a lysosomal repository disease (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene (chromosome 10q23.2–q23.3) that encodes LAL (Cossette et al. 2022).

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Wolman Disease

  • 动态工具书词条

  • 发表日期：

    2025年

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  • Niloofar Deravi,
  • Nima Rezaei

摘要

Wolman disease (WD) is a lysosomal repository disease (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene (chromosome 10q23.2–q23.3) that encodes LAL (Cossette et al. 2022).