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 Disorders of Peptide and Amine
Disorders of Peptide and Amine Metabolism Springer Nature Link Frontiers Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation Glutathione Synthase an overview ScienceDirect Topics Glutathione Synthetase Deficiency as a Cause of Hereditary Hemolytic Disease New England Journal of Medicine
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