glutathione synthetase deficiency oxoproline Pyroglutamic acidosis Mutations in the glutathione synthetase
Mutations in the glutathione synthetase gene cause 5oxoprolinuria Nature Genetics Disorders of Glutathione and Glutamyl Cycle Springer Nature Link 5 Oxoprolinuria as a Cause for Metabolic Acidosis Renal Fellow Network Frontiers Glutathione: A Samsonian life sustaining small molecule that protects against oxidative stress, ageing and damaging inflammation Recurrent High Anion Gap Metabolic Acidosis Secondary to 5 Oxoproline (Pyroglutamic Acid) American Journal of Kidney Diseases 5Oxoprolinase deficiency: report of the first human OPLAH mutation Almaghlouth 2012 Clinical Genetics Wiley Online Library
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