HEXOSAMINIDASE-A DEFICIENCY PRESENTING AS ATYPICAL JUVENILE-ONSET SPINAL MUSCULAR-ATROPHY

被引:31
作者
PARNES, S
KARPATI, G
CARPENTER, S
KIN, NMKNY
WOLFE, LS
SURANYI, L
机构
[1] MONTREAL NEUROL INST & HOSP,3801 UNIV ST,MONTREAL H3A 2B4,QUEBEC,CANADA
[2] MCGILL UNIV,DEPT NEUROL & NEUROSURG,MONTREAL H3A 2T5,QUEBEC,CANADA
关键词
D O I
10.1001/archneur.1985.04060110058016
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1176 / 1180
页数:5
相关论文
共 22 条
[11]  
KOLODNY EH, 1982, NEUROLOGY, V32, P81
[12]  
LEDEEN RW, 1978, RES METHOD NEUROCHEM, V4, P371
[13]   JUVENILE PROGRESSIVE DYSTONIA - A NEW PHENOTYPE OF GM2 GANGLIOSIDOSIS [J].
MEEK, D ;
WOLFE, LS ;
ANDERMANN, E ;
ANDERMANN, F .
ANNALS OF NEUROLOGY, 1984, 15 (04) :348-352
[14]   ADULT GM2 GANGLIOSIDOSIS IN ASSOCIATION WITH TAY-SACHS DISEASE - A NEW PHENOTYPE [J].
NAVON, R ;
ARGOV, Z ;
BRAND, N ;
SANDBANK, U .
NEUROLOGY, 1981, 31 (11) :1397-1401
[15]  
OBRIEN JS, 1978, AM J HUM GENET, V30, P672
[16]  
OBRIEN JS, 1983, METABOLIC BASIS INHE, P945
[17]   SYNTHESIS OF BETA-HEXOSAMINIDASE IN CELL-FREE TRANSLATION AND IN INTACT FIBROBLASTS - AN INSOLUBLE PRECURSOR ALPHA-CHAIN IN A RARE FORM OF TAY-SACHS DISEASE [J].
PROIA, RL ;
NEUFELD, EF .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (20) :6360-6364
[18]   ADULT (CHRONIC) GM2 GANGLIOSIDOSIS - ATYPICAL SPINOCEREBELLAR DEGENERATION IN A JEWISH SIBSHIP [J].
RAPIN, I ;
SUZUKI, K ;
SUZUKI, K ;
VALSAMIS, MP .
ARCHIVES OF NEUROLOGY, 1976, 33 (02) :120-130
[19]   CHARACTERIZATION OF BETA-D-N-ACETYLHEXOSAMINIDASES C AND S IN FIBROBLASTS FROM CONTROL INDIVIDUALS AND PATIENTS WITH TAY-SACHS DISEASE [J].
REUSER, AJJ ;
GALJAARD, H .
FEBS LETTERS, 1976, 71 (01) :1-5
[20]  
SLIMAN RJ, 1983, ANN NEUROL, V14, P148