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Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980-2020

Glutaric aciduria type 1 (GA1) is a severe inherited neurometabolic disorder whose clinical outcome has improved after implementation of newborn screening (NBS) programs and prompt beginning of guideline-directed presymptomatic metabolic treatment. We report the outcome of our 40-year experience wit...

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Hauptverfasser: Mhanni, Aziz (VerfasserIn) , Aylward, Nicole (VerfasserIn) , Boy, Nikolas (VerfasserIn) , Martin, Bruce (VerfasserIn) , Sharma, Atul (VerfasserIn) , Rockman-Greenberg, Cheryl (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 25 November 2020
In: Molecular genetics and metabolism reports
Year: 2020, Jahrgang: 25, Pages: 1-3
ISSN:2214-4269
DOI:10.1016/j.ymgmr.2020.100666
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ymgmr.2020.100666
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S2214426920301129
Volltext
Verfasserangaben:A. Mhanni, N. Aylward, N. Boy, B. Martin, A. Sharma, C. Rockman-Greenberg
Beschreibung
Zusammenfassung:Glutaric aciduria type 1 (GA1) is a severe inherited neurometabolic disorder whose clinical outcome has improved after implementation of newborn screening (NBS) programs and prompt beginning of guideline-directed presymptomatic metabolic treatment. We report the outcome of our 40-year experience with the diagnosis and management of GA1 which has improved but remains suboptimal.
Beschreibung:Gesehen am 17.02.2022
Beschreibung:Online Resource
ISSN:2214-4269
DOI:10.1016/j.ymgmr.2020.100666

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