黏多糖贮积症
The mucopolysaccharidoses.
作者信息
Wraith J E, Rogers J G, Danks D M
机构信息
Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.
出版信息
Aust Paediatr J. 1987 Dec;23(6):329-34. doi: 10.1111/j.1440-1754.1987.tb00284.x.
Abstract
The experience of the Royal Children's Hospital in managing patients with mucopolysaccharidosis is discussed. All share the common feature of abnormal storage, within lysosomes, of partially degraded glycosaminoglycans, but different diseases within the group as a whole present different problems. The presentation, diagnosis and clinical outcome of 69 affected children are described.
摘要
本文讨论了皇家儿童医院治疗黏多糖贮积症患者的经验。所有患者都有一个共同特征，即溶酶体内部分降解的糖胺聚糖异常蓄积，但总体而言，该组内不同疾病存在不同问题。本文描述了69名患病儿童的临床表现、诊断情况及临床结果。
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