glutathione synthetase deficiency genereview On the horizon: Efforts in urea cycle disorders to better predict severity and develop novel treatment strategies Disorders of Peptide and Amine
Disorders of Peptide and Amine Metabolism Springer Nature Link Frontiers Leigh Syndrome: A Tale of Two Genomes Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency PMC Inborn errors in the metabolism of glutathione Orphanet Journal of Rare Diseases Springer Nature Link
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