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Conclusions Here, we report a case of a neonate with severe GSSD carrying compound heterozygous variants in GSS , expanding the varietal spectrum

Melanin production is inhibited by the action of glutathione on tyrosinase, the enzyme responsible for skin pigmentation

5.2 Mechanism and molecular target of glutathione GSH contains a free thiol group, which plays an important role in basal neurological regulation and cellular redox state

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