Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation
Glutathione synthetase deficiency (GSSD) is an autosomal-recessive metabolic disorder caused by glutathione synthetase (GSS) gene mutations. No more than 90 cases of GSSD have been reported worldwide; thus, the spectrum of GSS mutations and the genotype-phenotype association remain unclear. Here, we...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2023-07-01T00:00:00Z.
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