Biochemical heterogeneity in glutathione synthetase deficiency.

Two different clinical syndromes are associated with glutathione synthetase deficiency, one presenting with hemolytic anemia and 5-oxoprolinuria, the other with isolated hemolysis. We have differentiated these disorders on an enzymatic basis. In 5-oxoprolinuria, all cell types examined have grossly...

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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	Spielberg, S P, Garrick, M D, Corash, L M, Butler, J D, Tietze, F, Rogers, L, Schulman, J D
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1978
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC372666/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/659603/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI109060
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