pompe disease meaning in English
糖原病Ⅱ型
Examples
- Among the definable underlying diseases , 31 . 0 % were diagnosed as inherited metabolic disorders , including mitochondrial disorders ( n = 4 ) , primary systemic carnitine deficiency ( n = 1 ) , pompe disease ( n = 3 ) and mucopolysaccharidosis ( mps ) i ( n = 1 )
此外在这个研究分析中发现，有很大部分的心肌病变儿童( 50 % )并未找到造成疾病的根本原因；并且这部分的儿童亦未曾接受过适当的遗传与代谢疾病筛检。