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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Detalles Bibliográficos
Autores principales: Mhanni, A., Aylward, N., Boy, N., Martin, B., Sharma, A., Rockman-Greenberg, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Short Communication
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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author Mhanni, A.
Aylward, N.
Boy, N.
Martin, B.
Sharma, A.
Rockman-Greenberg, C.
author_facet Mhanni, A.
Aylward, N.
Boy, N.
Martin, B.
Sharma, A.
Rockman-Greenberg, C.
author_sort Mhanni, A.
collection PubMed
description 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.
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spelling pubmed-77044582020-12-08 Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–2020 Mhanni, A. Aylward, N. Boy, N. Martin, B. Sharma, A. Rockman-Greenberg, C. Mol Genet Metab Rep Short Communication 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. Elsevier 2020-11-25 /pmc/articles/PMC7704458/ /pubmed/33299796 http://dx.doi.org/10.1016/j.ymgmr.2020.100666 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Mhanni, A.
Aylward, N.
Boy, N.
Martin, B.
Sharma, A.
Rockman-Greenberg, C.
Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–2020
title Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–2020
title_full Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–2020
title_fullStr Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–2020
title_full_unstemmed Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–2020
title_short Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–2020
title_sort outcome of the glutaric aciduria type 1 (ga1) newborn screening program in manitoba: 1980–2020
topic Short Communication
url 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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