glutathione synthetase deficiency genereviews Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other Diagnosis and treatment of tyrosinemia
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations Genetics in Medicine Multiple congenital anomalies in two fetuses with glutathionesynthetase deficit (GSS) Jury 2024 Clinical Genetics Wiley Online Library Early genetic diagnosis of glutathione synthetase deficiency with pathogenic variants in glutathione synthetase gene: A case report ScienceDirect Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases
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