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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...
Autores principales: | Mhanni, A., Aylward, N., Boy, N., Martin, B., Sharma, A., Rockman-Greenberg, C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7704458/ https://www.ncbi.nlm.nih.gov/pubmed/33299796 http://dx.doi.org/10.1016/j.ymgmr.2020.100666 |
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