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 Nineteen-year follow-up of a patient
Nineteen year follow up of a patient with severe glutathione synthetase deficiency Journal of Human Genetics Inborn errors of enzymes in glutamate metabolism PMC Disorders of Peptide and Amine Metabolism Springer Nature Link Glutathione synthetase deficiency MedLink Neurology Multiple congenital anomalies in two fetuses with glutathionesynthetase deficit (GSS) Jury 2024 Clinical Genetics Wiley Online Library
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