Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, which is caused by pathogenic variants of G6PD that result in decreased G6PD activity, is an X-linked inherited inborn error of metabolism that occurs worldwide. Individuals with G6PD deficiency and heterozygous females with normal G6PD activity (...

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Detalles Bibliográficos
Autores principales: Xia, Zhongmin, Wang, Xudong, Ye, Huiming, Gao, Chunliu, Zhou, Xiaoman, Chen, Jing, Ge, Yunsheng, Li, Juan, Zhou, Yulin, Guo, Qiwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9538342/
https://www.ncbi.nlm.nih.gov/pubmed/36212124
http://dx.doi.org/10.3389/fgene.2022.844381

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9538342/
https://www.ncbi.nlm.nih.gov/pubmed/36212124
http://dx.doi.org/10.3389/fgene.2022.844381

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