PROGRESSIVE CEREBELLAR-ATAXIA, SPASTICITY, PSYCHOMOTOR RETARDATION, AND HEXOSAMINIDASE DEFICIENCY IN A 10-YEAR-OLD CHILD - JUVENILE SANDHOFF DISEASE

被引：31

作者：

MACLEOD, PM

WOOD, S

JAN, JE

APPLEGARTH, DA

DOLMAN, CL

机构：

[1] UNIV BRITISH COLUMBIA,DEPT MED GENET,VANCOUVER V5Z 1L7,BC,CANADA

[2] UNIV BRITISH COLUMBIA,DEPT PAEDIAT,DIV NEUROL,VANCOUVER V5Z 1L7,BC,CANADA

[3] UNIV BRITISH COLUMBIA,DEPT PAEDIAT,DIV PAEDIAT PATHOL,VANCOUVER V5Z 1L7,BC,CANADA

[4] UNIV BRITISH COLUMBIA,DEPT PATHOL,VANCOUVER V5Z 1L7,BC,CANADA

来源：

关键词：

D O I：

10.1212/WNL.27.6.571

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：571 / 573

页数：3

共 7 条

[1]

Dolman C L, 1975, Can J Neurol Sci, V2, P67

[2]

LOWRY OH, 1951, J BIOL CHEM, V193, P265

OBRIEN, JS ;

OKADA, S ;

CHEN, A ;

FILLERUP, DL .

[4]

OKADA S, 1972, PEDIATR RES, V6, P606

[5]

SANDHOFF K, 1968, LIFE SCI, V7, P278

[6] NEW VARIANT OF SANDHOFFS-DISEASE [J].

SPENCE, MW ;

RIPLEY, BA ;

EMBIL, JA ;

TIBBLES, JAR .

[7]

WOOD S, 1975, AM J HUM GENET, V27, pA95