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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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Publicado en:Mol Genet Metab Rep
Main Authors: Mhanni, A., Aylward, N., Boy, N., Martin, B., Sharma, A., Rockman-Greenberg, C.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2020
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Acceso en liña: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
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