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19-Year Follow-up of A Patient With Severe Glutathione Synthetase Deficiency
Glutathione synthetase deficiency is a rare autosomal recessive disorder resulting in low levels of glutathione and an increased susceptibility to oxidative stress. Patients with glutathione synthetase deficiency typically present in the neonatal period with hemolytic anemia, metabolic acidosis and...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961564/ https://www.ncbi.nlm.nih.gov/pubmed/26984560 http://dx.doi.org/10.1038/jhg.2016.20 |