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 Disorders of Peptide and Amine
Disorders of Peptide and Amine Metabolism Springer Nature Link Multiple congenital anomalies in two fetuses with glutathionesynthetase deficit (GSS) Jury 2024 Clinical Genetics Wiley Online Library Glutathione synthetase deficiency MedLink Neurology Glutathione Synthetase Deficiency as a Cause of Hereditary Hemolytic Disease New England Journal of Medicine Brasil A case of severe glutathione synthetase deficiency with novel GSS mutations A case of severe glutathione synthetase deficiency with novel GSS mutations Inborn errors of enzymes in glutamate metabolism PMC
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