Neurological impairment in nephropathic cystinosis: motor coordination deficits

@inproceedings{Trauner2010NeurologicalII,
  title={Neurological impairment in nephropathic cystinosis: motor coordination deficits},
  author={Doris A. Trauner and Jennifer Williams and Angela O. Ballantyne and Amy M. Spilkin and Jennifer Crowhurst and J R Hesselink},
  booktitle={Pediatric Nephrology},
  year={2010}
}
Nephropathic cystinosis is a rare genetic metabolic disorder that results in accumulation of the amino acid cystine in lysosomes due to lack of a cystine-specific transporter protein. Cystine accumulates in cells throughout the body and causes progressive damage to multiple organs, including the brain. Neuromotor deficits have been qualitatively described… CONTINUE READING