Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases.

@article{Yu2013EnzymaticSA,
  title={Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases.},
  author={Chunli Yu and Qin Juan Sun and Hui Zhou},
  journal={North American journal of medicine & science},
  year={2013},
  volume={6 4},
  pages={186-193}
}
Lysosomal storage diseases (LSDs) are a group of more than 50 genetic disorders. Clinical symptoms are caused by the deficiency of specific enzyme (enzymes) function and resultant substrate accumulation in the lysosomes, which leads to impaired cellular function and progressive tissue and organ dysfunction. Measurement of lysosomal enzyme activity plays an important role in the clinical diagnosis of LSDs. The major enzymatic testing methods include fluorometric assays using artificial 4… CONTINUE READING
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