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Deficient Glutathione in the Pathophysiology of Mycotoxin Related Illness Loss of function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport Journal of Human Genetics Multiple congenital anomalies in two fetuses with glutathionesynthetase deficit (GSS) Jury 2024 Clinical Genetics Wiley Online Library Nineteen year follow up of a patient with severe glutathione synthetase deficiency Journal of Human Genetics Glutathione Synthetase Deficiency as a Cause of Hereditary Hemolytic Disease New England Journal of Medicine
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