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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Detalles Bibliográficos
Autores principales: Xia, H., Ye, J., Wang, L., Zhu, J., He, Z.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Associação Brasileira de Divulgação Científica 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769757/
https://www.ncbi.nlm.nih.gov/pubmed/29340523
http://dx.doi.org/10.1590/1414-431X20176853

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769757/
https://www.ncbi.nlm.nih.gov/pubmed/29340523
http://dx.doi.org/10.1590/1414-431X20176853

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