医学
Hurler综合征
移植
粘多糖病Ⅰ
儿科
重症监护医学
作者
Sandhya Kharbanda,Christopher C. Dvorak
摘要
Hurler syndrome (mucopolysaccharidosis type I, Hurler variant [MPSIH]) is caused by autosomal recessive mutations in IDUA, leading to absent α-L-iduronidase (IDUA) expression. Deficient clearance o...
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