诊断和管理II型粘多糖症的诊断和管理

Shao-Jia Mao1, Qing-Qing Chen1, Yang-Li Dai1

  • 1Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China.

PubMed
概括

粘多糖二型 (MPS II) 是一种罕见的遗传性疾病,由于缺酸-2-硫酶,影响细胞功能. 诊断包括临床症状,成像和遗传检测,在中国治疗选择有限,误诊率高.

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