Clinical features and follow-up study on 55 patients with adolescence-onset methylmalonic acidemia

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 diagn...

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Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 62(2024), 6 vom: 02. Juni, Seite 520-525
1. Verfasser: Ma, X (VerfasserIn)
Weitere Verfasser: 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
Format: Online-Aufsatz
Sprache:Chinese
Veröffentlicht: 2024
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:English Abstract Journal Article Methylmalonic Acid 8LL8S712J7 Vitamin B 12 P6YC3EG204 MMACHC protein, human EC 1.- Oxidoreductases