Cerebrotendinous相关论文
脑腱黄瘤病(cerbrotendinous xanthomatosis,CTX)是由甾醇-27-羟化酶(CYP27A1)基因突变引起的罕见常染色体隐性遗传病,其发病率低,......
CXT is a rare inherited autosomal recessive lipid storage disease due to the impaired metabolic pathway of cholesterol s......
BACKGROUND Cerebrotendinous xanthomatosis(CTX)is a treatable autosomal recessive inherited metabolic disorder.It results......