CLINICAL AND GENETIC VARIATIONS IN THE SYNDROME OF ADULT GM2 GANGLIOSIDOSIS RESULTING FROM HEXOSAMINIDASE-A DEFICIENCY

被引:87
作者
ARGOV, Z
NAVON, R
机构
[1] CHAIM SHEBA MED CTR,IL-52621 TEL HASHOMER,ISRAEL
[2] TEL AVIV UNIV,SACKLER SCH MED,DEPT HUMAN GENET,IL-52621 TEL HASHOMER,ISRAEL
关键词
D O I
10.1002/ana.410160105
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:14 / 20
页数:7
相关论文
共 18 条
[1]  
CONZELMANN E, 1983, AM J HUM GENET, V35, P900
[2]  
CROME L, 1976, GREENFIELDS NEUROPAT
[3]   THE CLINICAL SPECTRUM OF HEXOSAMINIDASE DEFICIENCY DISEASES [J].
JOHNSON, WG .
NEUROLOGY, 1981, 31 (11) :1453-1456
[4]   JUVENILE SPINAL MUSCULAR-ATROPHY - A NEW HEXOSAMINIDASE DEFICIENCY PHENOTYPE [J].
JOHNSON, WG ;
WIGGER, HJ ;
KARP, HR ;
GLAUBIGER, LM ;
ROWLAND, LP .
ANNALS OF NEUROLOGY, 1982, 11 (01) :11-16
[5]  
JOHNSON WG, 1983, NEUROLOGY CLEVE S2, V33, P155
[6]  
KABACK M, 1979, CLIN RES, V27, pA121
[7]  
KELLY TE, 1976, CLIN GENET, V9, P540
[8]  
KOLODNY EH, 1982, NEUROLOGY, V32, pA81
[9]   HUMAN HEXOSAMINIDASE ISOZYMES - CHROMATOGRAPHIC-SEPARATION AS AN AID TO HETEROZYGOTE IDENTIFICATION [J].
NAKAGAWA, S ;
KUMIN, S ;
NITOWSKY, HM .
CLINICA CHIMICA ACTA, 1977, 75 (02) :181-191
[10]  
NAVON R, 1976, AM J HUM GENET, V28, P339