Cargando…
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and deat...
Autores principales: | Guo, Kejian, Zhou, Xuan, Chen, Xigui, Wu, Yili, Liu, Chuanxin, Kong, Qingsheng |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5920142/ https://www.ncbi.nlm.nih.gov/pubmed/29731766 http://dx.doi.org/10.3389/fgene.2018.00122 |
Ejemplares similares
-
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population
por: Wang, Ting, et al.
Publicado: (2019) -
Editorial: Newborn Screening for Inborn Errors of Metabolism: Is It Time for a Globalized Perspective Based on Genetic Screening?
por: Elmonem, Mohamed A., et al.
Publicado: (2021) -
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population
por: Tan, Jianqiang, et al.
Publicado: (2021) -
Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening
por: Tin, Oğuzhan, et al.
Publicado: (2023) -
Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study
por: Yang, Yuqi, et al.
Publicado: (2019)