Patients' perspectives on newborn screening for later-onset lysosomal storage diseases.

@article{Lisi2016PatientsPO,
  title={Patients' perspectives on newborn screening for later-onset lysosomal storage diseases.},
  author={Emily C. Lisi and Scott E. Gillespie and Dawn Alyssia Laney and Nadia Ben Ali},
  journal={Molecular genetics and metabolism},
  year={2016},
  volume={119 1-2},
  pages={109-14}
}
Lysosomal storage diseases (LSDs) are an individually rare but collectively common group of hereditary, progressive, multi-systemic disorders. Recent technological advances have brought newborn screening (NBS) for LSDs to attention in the United States. However, many LSD symptoms present in later childhood or adulthood, with a wide spectrum of severity. Because late-onset symptoms stray from the traditional NBS model, healthcare providers have expressed concerns about potential harm to patients… CONTINUE READING
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