diagnosis glutathione synthetase deficiency Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS) - Jury - 2024 - Clinical Genetics Nineteen-year follow-up of a patient
Nineteen year follow up of a patient with severe glutathione synthetase deficiency Journal of Human Genetics Subnormal Serum Liver Enzyme Levels: A Review of Pathophysiology and Clinical Significance Inborn errors in the metabolism of glutathione Orphanet Journal of Rare Diseases Springer Nature Link Association of tear fluid glutathione synthetase and glutathione levels with amyloid positivity Scientific Reports
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