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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 Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other Frontiers Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults Frontiers Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation

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