Cystinosis: quantitative assay of cystine accumulation of homozygotes and heterozygotes.
D002478:Cells, Cultured; D002648:Child; D003553:Cystine / Q000032:analysis / Q000378:metabolism; D003554:Cystinosis / Q000378:metabolism*; D005347:Fibroblasts / Q000032:analysis; D005817:Genetic Counseling; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008967:Molecular Biology; D011506:Proteins / Q000032:analysis
D011506:Proteins; D003553:Cystine