Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation

Glutathione synthetase deficiency (GSSD) is an autosomal-recessive metabolic disorder caused by glutathione synthetase (GSS) gene mutations. No more than 90 cases of GSSD have been reported worldwide; thus, the spectrum of GSS mutations and the genotype–phenotype association remain unclear. Here, we...

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Detalles Bibliográficos
Autores principales: Wu, Xiaojiao, Jiao, Jiancheng, Xia, Yaofang, Yan, Xiaotong, Liu, Zehao, Cao, Yanyan, Ma, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413980/
https://www.ncbi.nlm.nih.gov/pubmed/37576147
http://dx.doi.org/10.3389/fped.2023.1212405

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