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...

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Detalles Bibliográficos
Autores principales: Atwal, Paldeep S., Medina, Casey R., Burrage, Lindsay C., Sutton, V. Reid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
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

Internet

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

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