The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757262/
https://www.ncbi.nlm.nih.gov/pubmed/20157782
http://dx.doi.org/10.1007/s10545-009-9028-3

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