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Brasil A case of severe glutathione synthetase deficiency with novel GSS mutations A case of severe glutathione synthetase deficiency with novel GSS mutations Impaired Glutathione Synthesis in Neurodegeneration Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency PMC 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 Molybdenum Cofactor Deficiency in Humans
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