1. Overview of Lysosomal Enzyme Deficiencies
- Lysosomal enzyme activity can be assessed in:
- Serum or plasma
- Leukocytes (white cell pellet)
- Cultured fibroblasts
2. Pseudodeficiency in Lysosomal Storage Diseases
- Enzyme levels in the heterozygous range may not correlate with disease due to high heterozygosity prevalence in the general population.
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- Published:08 December 2024 Last Updated:10 December 2024
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