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Mucopolysaccharidoses are inherited disorders caused by lysosomal enzyme deficiencies that impair glycosaminoglycan (GAG) breakdown, leading to their accumulation and disrupting cellular and organ function.

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Hurler-Scheie Syndrome

  • 动态工具书词条

  • 发表日期：

    2025年

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  • Asmae Akbari,
  • Iryna Ivanova

摘要

Mucopolysaccharidoses are inherited disorders caused by lysosomal enzyme deficiencies that impair glycosaminoglycan (GAG) breakdown, leading to their accumulation and disrupting cellular and organ function.