glutathione synthetase deficiency genereview - an overview Early genetic diagnosis of glutathione
Early genetic diagnosis of glutathione synthetase deficiency with pathogenic variants in glutathione synthetase gene: A case report ScienceDirect Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations Genetics in Medicine Loss of function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport Journal of Human Genetics 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
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