Ontology highlight
ABSTRACT:
SUBMITTER: Mhanni A
PROVIDER: S-EPMC7704458 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
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]