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A case of severe glutathione synthetase deficiency with novel GSS mutations
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A...
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| Udgivet i: | Braz J Med Biol Res |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Associação Brasileira de Divulgação Científica
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5769757/ https://ncbi.nlm.nih.gov/pubmed/29340523 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1414-431X20176853 |
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