Peroxisomal biogenesis disorders (PBDs)

过氧化物酶体生物发生障碍

英文解释

Peroxisomal biogenesis disorders (PBDs) is a heterogeneous autosomal recessive disorders. In PBDs, peroxisome assembly is impaired, leading to multiple peroxisome enzyme deficiencies, complex developmental sequelae and progressive disabilities.

中文解释

过氧化物酶体生物发生障碍 (PBD) 是一种异质性常染色体隐性遗传病。在 PBD 中，过氧化物酶体组装受损，导致多种过氧化物酶缺陷、复杂的发育后遗症和进行性残疾。

参考文献

[1]. Braverman NE, et al. Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 2013;17(3):187-96.