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Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China

BACKGROUND: Tandem mass spectrometry (MS/MS) has been available in China for 8 years. This technique makes it possible to screen for a wide range of previously unscreened inborn errors of metabolism (IEM) using a single test. This 3-year pilot study investigated the screening, diagnosis, treatment a...

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Detalles Bibliográficos
Autores principales: Huang, Xinwen, Yang, Lili, Tong, Fan, Yang, Rulai, Zhao, Zhengyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306752/
https://www.ncbi.nlm.nih.gov/pubmed/22364411
http://dx.doi.org/10.1186/1471-2431-12-18