Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.

@article{Kingma2015EpidemiologyAD,
  title={Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.},
  author={Sandra D. K. Kingma and Olaf A F Bodamer and Frits A. Wijburg},
  journal={Best practice & research. Clinical endocrinology & metabolism},
  year={2015},
  volume={29 2},
  pages={145-57}
}
The lysosomal storage disorders (LSDs) are a group of genetic disorders resulting from defective lysosomal metabolism and subsequent accumulation of substrates. Patients present with a large phenotypic spectrum of disease manifestations that are generally not specific for LSDs, leading to considerable diagnostic delay and missed cases. Introduction of new… CONTINUE READING

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