Cystinosis

N Engl J Med. 2002 Jul 11;347(2):111-21. doi: 10.1056/NEJMra020552.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Amino Acid Transport Systems, Neutral
  • Cysteamine / pharmacology
  • Cysteamine / therapeutic use*
  • Cystine / metabolism
  • Cystinosis* / diagnosis
  • Cystinosis* / genetics
  • Cystinosis* / physiopathology
  • Cystinosis* / therapy
  • Glycoproteins*
  • Humans
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics
  • Membrane Transport Proteins
  • Mutation

Substances

  • Amino Acid Transport Systems, Neutral
  • CTNS protein, human
  • Glycoproteins
  • Membrane Proteins
  • Membrane Transport Proteins
  • Cystine
  • Cysteamine