Rapid, simplified diagnosis of cystinosis in conjunctival biopsies.
Assessment of the markedly elevated concentration of free cystine in conjunctival tissue from patients with cystinosis permits a rapid, simple, and unequivocal diagnosis of this disorder of amino acid metabolism.
D001706:Biopsy; D002648:Child; D002854:Chromatography, Paper; D003228:Conjunctiva / Q000032:analysis*; D003553:Cystine / Q000032:analysis; D003554:Cystinosis / Q000175:diagnosis*; D005260:Female; D006801:Humans
D003553:Cystine