glutathione synthetase deficiency genereview as a Cause of Hereditary Hemolytic Disease 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 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 Inborn errors of enzymes in glutamate metabolism PMC Frontiers Leigh Syndrome: A Tale of Two Genomes Early genetic diagnosis of glutathione synthetase deficiency with pathogenic variants in glutathione synthetase gene: A case report ScienceDirect
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