diagnosis glutathione synthetase deficiency Genetic Insights into Deficiency: Understanding the Role of Genetic Testing Inborn errors in the metabolism
Inborn errors in the metabolism of glutathione Orphanet Journal of Rare Diseases Springer Nature Link Glutathione Synthetase Deficiency StoryMD Frontiers Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation Diagnosis and clinical management of enzymopathies PMC
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