Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.
Details
State: Public
Version: Final published version
License: Not specified
It was possible to publish this article open access thanks to a Swiss National Licence with the publisher.
Serval ID
serval:BIB_29685
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.
Journal
European Journal of Pediatrics
ISSN
0340-6199
Publication state
Published
Issued date
2003
Peer-reviewed
Oui
Volume
162
Number
Suppl. 1
Pages
17-20
Language
english
Notes
Publication types: Journal Article ; Review
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).
Keywords
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
OAI-PMH
Pubmed
Web of science
Open Access
Yes
Create date
19/11/2007 13:27
Last modification date
14/02/2022 8:54
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