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Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis

BACKGROUND: Glutaric aciduria type I (GA-I) is a rare metabolic disorder caused by inherited deficiency of glutaryl-CoA dehydrogenase. Despite high prognostic relevance of early diagnosis and start of metabolic treatment as well as an additional cost saving potential later in life, only a limited nu...

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Detalles Bibliográficos
Autores principales:	Pfeil, Johannes, Listl, Stefan, Hoffmann, Georg F, Kölker, Stefan, Lindner, Martin, Burgard, Peter
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015693/ https://www.ncbi.nlm.nih.gov/pubmed/24135440 http://dx.doi.org/10.1186/1750-1172-8-167

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