THE PRESENTING FEATURES OF MUCOPOLYSACCHARIDOSIS TYPE IH (HURLER-SYNDROME)

被引：73

作者：

CLEARY, MA ^{[1
]}

WRAITH, JE ^{[1
]}

机构：

[1] ROYAL MANCHESTER CHILDRENS HOSP,WILLINK BIOCHEM GENET UNIT,MANCHESTER M27 4HA,LANCS,ENGLAND

来源：

ACTA PAEDIATRICA | 1995年 / 84卷 / 03期

关键词：

HURLER SYNDROME; IDURONIDASE DEFICIENCY; MUCOPOLYSACCHARIDOSIS;

D O I：

10.1111/j.1651-2227.1995.tb13640.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The presenting features of 39 patients with mucopolysaccharidosis (MPS) type IH are described. The mean age at diagnosis was approximately 9 months and it is difficult to see how this can be reduced without consideration of newborn screening. An earlier age at diagnosis is likely to lead to better results following therapy such as bone marrow transplantation. Clinical features which should arouse suspicion of MPS IH include frequent ENT surgery and recurrent herniae. Clinical vigilance is needed for early diagnosis.

引用

页码：337 / 339

页数：3

共 6 条

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LITJENS, T ;

CLEMENTS, PR ;

BROOKS, DA ;

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