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Biochemical diagnosis of cystinosis using leukocytes
Acta Paediatrica Scandinavica
|January 1, 1975
Abstract:
A simple method for the biochemical diagnosis of cystinosis involves incubating leukocytes from a small volume of blood with 35S-cystine. Non-protein 35S-labelled compounds are then extracted from the leucocytes and separated by thin-layer chromatography. The excessive incorporation of 35S-cystine into the increased cystine pool of cystine cells is easily detected in autoradiographs of the chromatograms.