Article
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.
Journal of inherited metabolic disease - 1 Dec 2010
Catanzano Francesca, Ombrone Daniela, Di Stefano Cristina, Rossi Anna, Nosari Norberto, Scolamiero Emanuela, Tandurella Igor, Frisso Giulia, Parenti Giancarlo, Ruoppolo Margherita, Andria Generoso, Salvatore Francesco
Abstract excerpt
A pilot expanded newborn screening programme to detect inherited metabolic disorders by means of liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) began in the Campania region, southern Italy, in 2007. By October 2009, >8,800 dried blood samples on filter paper from 11 hospit...
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