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 as well as an additional cost saving potential later in life, only a limited number of coun...
Gespeichert in:
| Hauptverfasser: | , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
17 October 2013
|
| In: |
Orphanet journal of rare diseases
Year: 2013, Jahrgang: 8, Pages: 1-11 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/1750-1172-8-167 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/1750-1172-8-167
|
| Verfasserangaben: | Johannes Pfeil, Stefan Listl, Georg F. Hoffmann, Stefan Kölker, Martin Lindner and Peter Burgard |
| Zusammenfassung: | 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 number of countries recommend newborn screening for GA-I. So far only limited data is available enabling health care decision makers to evaluate whether investing into GA-I screening represents value for money. The aim of our study was therefore to assess the cost-effectiveness of newborn screening for GA-I by tandem mass spectrometry (MS/MS) compared to a scenario where GA-I is not included in the MS/MS screening panel. |
|---|---|
| Beschreibung: | Gesehen am 20.01.2022 |
| Beschreibung: | Online Resource |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/1750-1172-8-167 |