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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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Dades bibliogràfiques
Publicat a:J Clin Invest
Autors principals: Spielberg, S P, Garrick, M D, Corash, L M, Butler, J D, Tietze, F, Rogers, L, Schulman, J D
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 1978
Matèries:
Accés en línia: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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