glutathione synthetase deficiency genereview Participation in the Prevention of Cardiovascular Diseases 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 Brasil A case of severe glutathione synthetase deficiency with novel GSS mutations A case of severe glutathione synthetase deficiency with novel GSS mutations Frontiers Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation Molybdenum Cofactor Deficiency in Humans
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