Cystinosis.
Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Md 20892-1830, USA. bgahl@helix.nih.gov
William A
WA
Gahl
Jess G
JG
Thoene
Jerry A
JA
Schneider
D026921:Amino Acid Transport Systems, Neutral; D003543:Cysteamine / Q000494:pharmacology / Q000627:therapeutic use*; D003553:Cystine / Q000378:metabolism; D003554:Cystinosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D006023:Glycoproteins; D006801:Humans; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics; D026901:Membrane Transport Proteins; D009154:Mutation
D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human; D006023:Glycoproteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D003553:Cystine; D003543:Cysteamine