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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Mhanni, A., Aylward, N., Boy, N., Martin, B., Sharma, A., Rockman-Greenberg, C.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2020
Matèries:
Short Communication
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7704458/
https://ncbi.nlm.nih.gov/pubmed/33299796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100666
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars