Sign Up to like & get
recommendations!
0
Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.01.011
Abstract: INTRODUCTION Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Patients with nephropathic cystinosis suffer not only from renal disease but have also other systemic complications like…
read more here.
Keywords:
patients cystinosis;
patients nephropathic;
swallowing dysfunction;
nephropathic cystinosis ... See more keywords