Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980-2020.
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ABSTRACT:
SUBMITTER: Mhanni A
PROVIDER: S-EPMC7704458 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
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Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980-2020.
Mhanni A A Aylward N N Boy N N Martin B B Sharma A A Rockman-Greenberg C C
Molecular genetics and metabolism reports 20201125
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. ...[more]
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