MUCOLIPIDOSIS-IV

被引：20

作者：

GOUTIERES, F ^{[1
]}

ARSENIONUNES, ML ^{[1
]}

AICARDI, J ^{[1
]}

机构：

[1] INSERM,UNITE 154,F-75005 PARIS,FRANCE

来源：

NEUROPADIATRIE | 1979年 / 10卷 / 04期

关键词：

D O I：

10.1055/s-0028-1085335

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

5 New cases of mucolipidosis IV are presented and the 7 cases in the literature reviewed. Neurological signs of the disorder and the value of skin and conjunctival biopsies for its diagnosis are emphasized. Arguments in favour of a recessive autosomal inheritance are discussed. The disease does not exclusively affect Jewish people. In two cases absence of oligosacchariduria was demonstrated.

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页码：321 / 331

页数：11

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