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01-12-2003 | Article

Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution

Author: Andrea Superti-Furga

Published in: European Journal of Pediatrics | Special Issue 1/2003

Abstract

The new technology of tandem mass spectrometry is having a significant impact on the diagnostics of inborn metabolic errors. One of the most important aspects of this new technology is the possibility of recognising a whole class of disorders within a single analytical step. Shall this powerful technology be applied to the screening of newborn babies? Careful evaluation of every single disorder that could potentially be identified is needed. In the following, I will present some considerations that concern glutaric aciduria type 1 (MIM 231670; glutaryl-CoA dehydrogenase deficiency).

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Title: Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution
Author: Andrea Superti-Furga
Publication date: 01-12-2003
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue Special Issue 1/2003
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-003-1344-2

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Springer Medicine

Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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