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Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics Genetics in Medicine Disorder of Glutathione Metabolism Springer Nature Link Glutathione synthetase deficiency MedLink Neurology Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency PMC A rare case of Glutathione Synthetase Deficiency in a newborn with normal neurological development on follow up ScienceDirect
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