glutathione synthetase deficiency omim Frontiers 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 Full article: Glutathione synthetase deficiency: a novel mutation with femur agenesis Glutathione synthetase Abcam Inborn errors in the metabolism of glutathione Orphanet Journal of Rare Diseases Springer Nature Link
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