glutathione synthetase deficiency smear Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS) - Jury - 2024 - Clinical Genetics Inborn errors in the metabolism
Inborn errors in the metabolism of glutathione Orphanet Journal of Rare Diseases Springer Nature Link Diagnosis and clinical management of enzymopathies PMC Frontiers Usefulness of NGS for Diagnosis of Dominant Beta Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases Impaired Glutathione Synthesis in Neurodegeneration
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