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Inborn errors of enzymes in glutamate metabolism Rumping 2020 Journal of Inherited Metabolic Disease Wiley Online Library ATP binding Cassette Transporter Defects and Their Roles in Hepatic Diseases Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency PMC Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics Genetics in Medicine Glutathione synthetase deficiency MedLink Neurology
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