glutathione synthetase deficiency genereview Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics Frontiers | Case report: A

Frontiers Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation Disorders of Peptide and Amine Metabolism Springer Nature Link Inborn errors of enzymes in glutamate metabolism PMC Multiple congenital anomalies in two fetuses with glutathionesynthetase deficit (GSS) Jury 2024 Clinical Genetics Wiley Online Library Inborn errors in the metabolism of glutathione Orphanet Journal of Rare Diseases Springer Nature Link Brasil A case of severe glutathione synthetase deficiency with novel GSS mutations A case of severe glutathione synthetase deficiency with novel GSS mutations

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