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Brasil A case of severe glutathione synthetase deficiency with novel GSS mutations A case of severe glutathione synthetase deficiency with novel GSS mutations Inborn errors of enzymes in glutamate metabolism PMC Loss of function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport Journal of Human Genetics Glutathione Synthase an overview ScienceDirect Topics Frontiers Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series

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