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

Détails

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Etat: Public
Version: Final published version
Licence: Non spécifiée
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ID Serval
serval:BIB_29685
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.
Périodique
European Journal of Pediatrics
Auteur⸱e⸱s
Superti-Furga A.
ISSN
0340-6199
Statut éditorial
Publié
Date de publication
2003
Peer-reviewed
Oui
Volume
162
Numéro
Suppl. 1
Pages
17-20
Langue
anglais
Notes
Publication types: Journal Article ; Review
Résumé
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).
Mots-clé
Amino Acid Metabolism, Inborn Errors/diagnosis, Amino Acid Metabolism, Inborn Errors/genetics, Biomedical Technology/trends, Glutarates/metabolism, Glutaryl-CoA Dehydrogenase, Humans, Infant, Newborn, Neonatal Screening/methods, Oxidoreductases Acting on CH-CH Group Donors/deficiency
Pubmed
Web of science
Open Access
Oui
Création de la notice
19/11/2007 13:27
Dernière modification de la notice
14/02/2022 8:54
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