Krabbe Disease in the Australian Working Kelpie

@inproceedings{Fletcher2009KrabbeDI,
  title={Krabbe Disease in the Australian Working Kelpie},
  author={Jessica Louise Fletcher and Peter R. Williamson and Rosanne Maree Taylor},
  year={2009}
}
Krabbe disease is a lysosomal storage disorder that affects several species including humans, mice and dogs. It is caused by mutations in the GALC gene that encodes galactosylceramidase. These mutations result in lowered activity of this lysosomal enzyme which has an important role in myelin turnover. As a consequence, individuals with Krabbe disease show signs of neurological disease and pathological features occur in the central and peripheral nervous systems. These pathological features are… CONTINUE READING

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