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Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China

Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disease caused by a defect of mitochondrial acetoacetyl-CoA thiolase. Beginning in 2014, we carried out newborn screening by tandem mass spectrometry (MS/MS) followed by next-generation sequencing (NGS) and identified two infants with BKT...

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Detalles Bibliográficos
Autores principales:	Yang, Yuqi, Jiang, Shu hong, Liu, Shuang, Han, Xiao ya, Wang, Ying, Wang, Lei lei, Yu, Bin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530354/ https://www.ncbi.nlm.nih.gov/pubmed/31156707 http://dx.doi.org/10.3389/fgene.2019.00451

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