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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 Hemolytic Anemia Due to Gamma Glutamylcysteine Synthetase Deficiency: A Rare Novel Case in an Arab Muslim Israeli Child Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other Inborn errors of enzymes in glutamate metabolism Rumping 2020 Journal of Inherited Metabolic Disease Wiley Online Library Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations Genetics in Medicine
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