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Quantification of total sulfate per glycosaminoglycan disaccharide in Karpas299 cells transduced with a sgControl or sg PAPSS1
Notably, patients with mutations in GGT1 often present with developmental disorders, accumulation of GSH (glutathionaemia and glutathionuria) and reduced circulating levels of cystine 25
doi:10.1056/NEJMoa1600869 Scheen AJ, Paquot N
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