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Diagnosis of GD is often delayed several years after the onset of the first clinical and laboratory presentation due to a lack of awareness of the disease and the challenges in both biochemical and genetic diagnosis of GD (Fig. 4.1).

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Overview of Diagnostic Approach to Gaucher Disease

  • 章节

  • 发表日期：

    2025年

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  • Ali Talea,
  • Mahsa Mohammad Amoli,
  • Parastoo Rostami

摘要

Diagnosis of GD is often delayed several years after the onset of the first clinical and laboratory presentation due to a lack of awareness of the disease and the challenges in both biochemical and genetic diagnosis of GD (Fig. 4.1).