glutathione synthetase deficiency genereview Current Treatment Modalities for Urea Cycle Disorders | Pediatric Drugs Loss-of-function variant of SLC27A3 causes

Loss of function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport Journal of Human Genetics Inborn errors of enzymes in glutamate metabolism PMC Inborn errors in the metabolism of glutathione Orphanet Journal of Rare Diseases Springer Nature Link Nineteen year follow up of a patient with severe glutathione synthetase deficiency Journal of Human Genetics

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