glutathione synthetase deficiency genereview Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics Inborn errors of enzymes in
Inborn errors of enzymes in glutamate metabolism PMC Nineteen year follow up of a patient with severe glutathione synthetase deficiency Journal of Human Genetics Glutathione synthetase deficiency MedLink Neurology Frontiers Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation
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