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Pompe病又称为Ⅱ型糖原累积病(glycogen storage disease,typeⅡ,GSDⅡ),由荷兰病理学家Pompe于1932年首先提出〔1〕,是一种由于先天性酸性α-葡萄糖苷(acidα-glucosidase,GAA)缺陷所导致的常染色体隐性遗传性代谢性疾病。近年来,特别是2006年美国FDA批准Myozyme作为Pompe病的酶替代治疗(enzyme replacement therapy,ERT)药物以来,对GSDII的自然过程、Myozyme的疗效、免疫反应、病理、新生儿筛查、运动规律、陪伴治疗
Pompe disease, also known as type Ⅱ glycogen storage disease (glycogen storage disease, type Ⅱ, GSD Ⅱ), first proposed by the Dutch pathologist Pompe in 1932 〔1〕, is a result of congenital acid α-glucoside -glucosidase, GAA) defects caused by autosomal recessive metabolic metabolic disease. In recent years, especially since the FDA approved Myozyme as enzyme replacement therapy (ERT) in Pompe disease in 2006, the natural process of GSDII, the therapeutic effect of Myozyme, immune response, pathology, neonatal screening, exercise Law, accompany treatment