569 Beta-glucosidase Activity in Cultured Skin Fibroblasts from Controls and Patients with Gaucher's Disease

@article{Wenqer1978569BA,
  title={569 Beta-glucosidase Activity in Cultured Skin Fibroblasts from Controls and Patients with Gaucher's Disease},
  author={David A Wenqer and Grant Olson},
  journal={Pediatric Research},
  year={1978},
  volume={12},
  pages={458-458}
}
Gaucher's disease is a group of autosomal recessive disorders involving the storage of glucosylceramide because of a deficiency of glucosylceramide β-glucosidase activity. The clinical pictures range from the non-neuronopathic form with variable symptoms ranging from mild to severe (Type 1), acute neuronopathic form with severe visceral and CNS involvement… CONTINUE READING