Title : Gas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency.

Pub. Date : 2022 May 5

PMID : 34791353






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1 Herein, we present a case of a newborn boy with the most severe phenotype of GSS deficiency, diagnosed based on clinical features and increased urinary 5-oxoproline levels determined via gas chromatography mass spectrometry (GCMS) testing. Pyrrolidonecarboxylic Acid glutathione synthetase Homo sapiens