glutathione synthetase deficiency genereview Participation in the Prevention of Cardiovascular Diseases Early genetic diagnosis of glutathione
Early genetic diagnosis of glutathione synthetase deficiency with pathogenic variants in glutathione synthetase gene: A case report ScienceDirect Glutathione Synthetase Deficiency as a Cause of Hereditary Hemolytic Disease New England Journal of Medicine Loss of function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport Journal of Human Genetics Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations Genetics in Medicine
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