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Glutathione Synthetase Deficiency as a Cause of Hereditary Hemolytic Disease New England Journal of Medicine Frontiers Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics Genetics in Medicine
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