glutathione synthetase deficiency genereview - an overview Loss-of-function variant of SLC27A3 causes
Loss of function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport Journal of Human Genetics Molybdenum Cofactor Deficiency in Humans Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations Genetics in Medicine 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 Brasil A case of severe glutathione synthetase deficiency with novel GSS mutations A case of severe glutathione synthetase deficiency with novel GSS mutations
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