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.

引用

页码：321 / 331

页数：11

共 15 条

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[2] ULTRAMICROSCOPIC STUDY OF SKIN IN DIAGNOSIS OF INFANTILE AND LATE INFANTILE TYPES OF CEROID-LIPOFUSCINOSIS
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[5] ABNORMAL GANGLIOSIDE ACCUMULATION IN CULTURED FIBROBLASTS FROM PATIENTS WITH MUCOLIPIDOSIS-IV
BACH, G
COHEN, MM
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[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1975, 66 (04) : 1483 - 1490
[6] CONGENITAL CORNEAL CLOUDING WITH ABNORMAL SYSTEMIC STORAGE BODIES - NEW VARIANT OF MUCOLIPIDOSIS
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[J]. JOURNAL OF PEDIATRICS, 1974, 84 (04) : 519 - 526
[7] MUCOLIPIDOSIS-1 - INCREASED SIALIC-ACID CONTENT AND DEFICIENCY OF ANALPHA-N-ACETYLNEURAMINIDASE IN CULTURED FIBROBLASTS
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[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1977, 74 (02) : 732 - 738
[8] PRENATAL DIAGNOSIS OF MUCOLIPIDOSIS-IV BY ELECTRON-MICROSCOPY
KOHN, G
LIVNI, N
ORNOY, A
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LEGUM, C
BACH, G
COHEN, MM
[J]. JOURNAL OF PEDIATRICS, 1977, 90 (01) : 62 - 66
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[10] MERIN S, 1975, INVEST OPHTH VISUAL, V14, P437

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