glutathione synthetase deficiency oxoproline Pyroglutamic Acidosis • LITFL • CCC Acid-base Inborn errors in the metabolism
Inborn errors in the metabolism of glutathione Orphanet Journal of Rare Diseases Springer Nature Link LC MS analysis of key components of the glutathione cycle in tissues and body fluids from mice with myocardial infarction ScienceDirect Mutations in the glutathione synthetase gene cause 5oxoprolinuria Nature Genetics Frontiers Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation
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