CHRONIC HEXOSAMINIDASE A AND B DEFICIENCY

被引:31
作者
GOLDIE, WD
HOLTZMAN, D
SUZUKI, K
机构
[1] STANFORD UNIV,SCH MED,DEPT NEUROL,STANFORD,CA 94305
[2] STANFORD UNIV,SCH MED,DEPT PEDIAT,STANFORD,CA 94305
[3] YESHIVA UNIV,ALBERT EINSTEIN COLL MED,DEPT NEUROL,BRONX,NY 10461
[4] YESHIVA UNIV,ALBERT EINSTEIN COLL MED,DEPT NEUROSCI,BRONX,NY 10461
关键词
D O I
10.1002/ana.410020212
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:156 / 158
页数:3
相关论文
共 10 条
[1]   LATE ONSET GM2-GANGLIOSIDOSIS - CLINICAL, PATHOLOGICAL, AND BIOCHEMICAL STUDIES ON 8 PATIENTS [J].
BRETT, EM ;
ELLIS, RB ;
HAAS, L ;
IKONNE, JU ;
LAKE, BD ;
PATRICK, AD ;
STEPHENS, R .
ARCHIVES OF DISEASE IN CHILDHOOD, 1973, 48 (10) :775-785
[2]  
LOWRY OH, 1951, J BIOL CHEM, V193, P265
[3]   TAY-SACHS DISEASE - DETECTION OF HETEROZYGOTES AND HOMOZYGOTES BY SERUM HEXOSAMINIDASE ASSAY [J].
OBRIEN, JS ;
OKADA, S ;
CHEN, A ;
FILLERUP, DL .
NEW ENGLAND JOURNAL OF MEDICINE, 1970, 283 (01) :15-&
[4]  
OBRIEN JS, 1971, FED PROC, V30, P956
[5]   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
[6]   DEFICIENT HEXOSAMINIDASE ACTIVITY IN AN EXCEPTIONAL CASE OF TAY-SACHS DISEASE WITH ADDITIONAL STORAGE OF KIDNEY GLOBOSIDE IN VISCERAL ORGANS [J].
SANDHOFF, K ;
ANDREAE, U ;
JATZKEWITZ, H .
LIFE SCIENCES PART 1 PHYSIOLOGY AND PHARMACOLOGY AND PART 2 BIOCHEMISTRY GENERAL AND MOLECULAR BIOLOGY, 1968, 7 (6P2) :283-+
[7]   USE OF WHITE CELLS AS A SOURCE OF DIAGNOSTIC MATERIAL FOR LIPID STORAGE DISEASES [J].
SNYDER, RA ;
BRADY, RO .
CLINICA CHIMICA ACTA, 1969, 25 (02) :331-&
[8]  
SUZUKI Y, 1974, J BIOL CHEM, V249, P2098
[9]   DETECTION OF TAY-SACHS DISEASE HETEROZYGOTES BY ASSAY OF HEXOSAMINIDASE-A IN SERUM AND LEUKOCYTES [J].
SUZUKI, Y ;
BERMAN, PH ;
SUZUKI, K .
JOURNAL OF PEDIATRICS, 1971, 78 (04) :643-+
[10]  
WOOD S, 1976, AM J HUM GENET, V28, P489