glutathione synthetase deficiency omim Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS) - Jury - 2024 - Clinical Genetics Expanding the phenotype of hawkinsinuria:
Expanding the phenotype of hawkinsinuria: new insights from response to N acetyl L cysteine Journal of Inherited Metabolic Disease Springer Nature Link Glutathione synthetase Abcam Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment Orphanet Journal of Rare Diseases Springer Nature Link SMPDB
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