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Available online: [DOI] [PubMed] [Google Scholar] 23.Huxley R., Ansary-Moghaddam A., Berrington De Gonzlez A., Barzi F., Woodward M

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The diagnosis is based on the finding of cysteinylglycinuria and decreased activity of dipeptidase, and is established by: Increased urinary excretion of cysteinyl glycine Normal concentration of cysteinyl glycine in plasma Low activity of dipeptidase in cultured skin fibroblasts and/or red blood cells