Article
[Clinical features and follow-up study on 55 patients with adolescence-onset methylmalonic acidemia].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2024
Ma X, Chen Z H, Zhang H T, He R X, Wang Q, Ding Y, Song J Q, Jin Y, Li M Q, Dong H, Zhang Y, Lu M, Lu X P, Cao H Q, Wang Y Q, Chen Y X, Zheng H, Yang Y L
Abstract excerpt
Objective: To investigate the clinical features and outcomes of adolescence-onset methylmalonic acidemia (MMA) and explore preventive strategies. Methods: This was a retrospective case analysis of the phenotypes, genotypes and prognoses of adolescence-onset MMA patients. There were 55 patients diagnosed in Peking University First Hospital from January 2002 to June 2023, the data of symptoms, signs, laboratory...
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