glutathione synthetase deficiency genereview Nineteen-year follow-up of a patient with severe Inborn errors in the metabolism
Inborn errors in the metabolism of glutathione Orphanet Journal of Rare Diseases Springer Nature Link Inborn errors of enzymes in glutamate metabolism PMC Glutathione Synthetase Deficiency StoryMD On the horizon: Efforts in urea cycle disorders to better predict severity and develop novel treatment strategies Kirkland A. Wilson, Nicholas Ah Mew, Andrea Gropman, 2025
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