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TriantafillidisJK ZCG, Konstadoulakis MM, Papalois AE

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Kasliwal RR, Bansal M, Gupta R, et al

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Diagnosis is made by measuring the concentration of different metabolites in the gamma-glutamyl cycle, enzyme activity and in glutathione synthetase and gamma-glutamylcysteine synthetase deficiency, also by mutation analysis