GANGLIOSIDE LOADING OF CULTURED FIBROBLASTS - A PROVOCATIVE METHOD FOR THE DIAGNOSIS OF THE GM2 GANGLIOSIDOSES

被引：5
作者：
CHARROW, J
BINNS, HJ
机构：
来源：
CLINICA CHIMICA ACTA | 1986年 / 156卷 / 01期
关键词：
D O I：
10.1016/0009-8981(86)90177-4
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：41 / 49
页数：9
相关论文
共 18 条
[1]  
BINNS H, 1984, American Journal of Human Genetics, V36, p8S
[2]  
BRADFORD MM, 1976, ANAL BIOCHEM, V72, P248, DOI 10.1016/0003-2697(76)90527-3
[3]  
CHARROW J, 1985, CLIN GENET, V27, P78
[4]   AB-VARIANT OF INFANTILE GM2 GANGLIOSIDOSIS - DEFICIENCY OF A FACTOR NECESSARY FOR STIMULATION OF HEXOSAMINIDASE A-CATALYZED DEGRADATION OF GANGLIOSIDE GM2 AND GLYCOLIPID GA2 [J].
CONZELMANN, E ;
SANDHOFF, K .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (08) :3979-3983
[5]   PURIFICATION, BIOCHEMICAL AND IMMUNOLOGICAL CHARACTERIZATION OF HEXOSAMINIDASE-A FROM VARIANT AB OF INFANTILE GM2 GANGLIOSIDOSIS [J].
CONZELMANN, E ;
SANDHOFF, K ;
NEHRKORN, H ;
GEIGER, B ;
ARNON, R .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1978, 84 (01) :27-33
[6]  
DAWSON G, 1972, J BIOL CHEM, V247, P5951
[7]   SYNTHESIS AND UPTAKE OF GANGLIOSIDES BY CHOLERAGEN-RESPONSIVE HUMAN FIBROBLASTS [J].
FISHMAN, PH ;
MOSS, J ;
MANGANIELLO, VC .
BIOCHEMISTRY, 1977, 16 (09) :1871-1875
[8]  
FISHMAN PH, 1978, J LIPID RES, V19, P304
[9]   GM2 GANGLIOSIDE IN FETAL TAY-SACHS DISEASE BRAIN CULTURES - MODEL SYSTEM FOR DISEASE [J].
HOFFMAN, LM ;
AMSTERDAM, D ;
SCHNECK, L .
BRAIN RESEARCH, 1976, 111 (01) :109-117
[10]  
INUI K, 1983, AM J HUM GENET, V35, P551
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