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Article

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

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 ...

Johannes Pfeil, Stefan Listl, Georg F Hoffmann… in Orphanet Journal of Rare Diseases (2013)