GENETIC-HETEROGENEITY IN GAUCHER DISEASE - PHYSICOKINETIC AND IMMUNOLOGICAL STUDIES OF THE RESIDUAL ENZYME IN CULTURED FIBROBLASTS FROM NON-NEURONOPATHIC AND NEURONOPATHIC PATIENTS

被引：54
作者：
GRABOWSKI, GA
GOLDBLATT, J
DINUR, T
KRUSE, J
SVENNERHOLM, L
GATT, S
DESNICK, RJ
机构：
[1] HEBREW UNIV JERUSALEM,HADASSAH MED SCH,NEUROCHEM LAB,IL-91010 JERUSALEM,ISRAEL
[2] ST JORGEN HOSP,PSYCHIAT RES CTR,DEPT NEUROCHEM,HISINGS BACHA,SWEDEN
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1985年 / 21卷 / 03期
关键词：
D O I：
10.1002/ajmg.1320210316
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：529 / 549
页数：21
相关论文
共 42 条
[1]   ASSIGNMENT OF THE GENE CODING FOR HUMAN BETA-GLUCOCEREBROSIDASE TO THE REGION Q21-Q31 OF CHROMOSOME-1 USING MONOCLONAL-ANTIBODIES [J].
BARNEVELD, RA ;
KEIJZER, W ;
TEGELAERS, FPW ;
GINNS, EI ;
GEURTSVANKESSEL, A ;
BRADY, RO ;
BARRANGER, JA ;
TAGER, JM ;
GALJAARD, H ;
WESTERVELD, A ;
REUSER, AJJ .
HUMAN GENETICS, 1983, 64 (03) :227-231
[2]  
BASU A, 1984, J BIOL CHEM, V259, P1714
[3]  
Beighton P, 1982, Prog Clin Biol Res, V95, P107
[4]   METABOLISM OF GLUCOCEREBROSIDES .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHERS DISEASE [J].
BRADY, RO ;
KANFER, JN ;
SHAPIRO, D .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1965, 18 (02) :221-&
[5]  
BRADY RO, 1978, METABOLIC BASIS INHE, P731
[6]  
BRINN L, 1962, N Y State J Med, V62, P2346
[7]  
CARSON DA, 1977, J IMMUNOL, V118, P270
[8]  
DESNICK RJ, 1982, MEMBRANES GENETIC DI, P193
[9]   REGIONAL ASSIGNMENT OF THE STRUCTURAL GENE FOR HUMAN ACID BETA-GLUCOSIDASE TO Q42-]QTER ON CHROMOSOME-1 [J].
DEVINE, EA ;
SMITH, M ;
ARREDONDOVEGA, FX ;
SHAFITZAGARDO, B ;
DESNICK, RJ .
CYTOGENETICS AND CELL GENETICS, 1982, 33 (04) :340-344
[10]   SYNTHESIS OF A FLUORESCENT DERIVATIVE OF GLUCOSYL CERAMIDE FOR THE SENSITIVE DETERMINATION OF GLUCOCEREBROSIDASE ACTIVITY [J].
DINUR, T ;
GRABOWSKI, GA ;
DESNICK, RJ ;
GATT, S .
ANALYTICAL BIOCHEMISTRY, 1984, 136 (01) :223-234
12345