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
    BARNEVELD, RA
    KEIJZER, W
    TEGELAERS, FPW
    GINNS, EI
    GEURTSVANKESSEL, A
    BRADY, RO
    BARRANGER, JA
    TAGER, JM
    GALJAARD, H
    WESTERVELD, A
    REUSER, AJJ
    [J]. 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
    BRADY, RO
    KANFER, JN
    SHAPIRO, D
    [J]. 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
    DEVINE, EA
    SMITH, M
    ARREDONDOVEGA, FX
    SHAFITZAGARDO, B
    DESNICK, RJ
    [J]. 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
    DINUR, T
    GRABOWSKI, GA
    DESNICK, RJ
    GATT, S
    [J]. ANALYTICAL BIOCHEMISTRY, 1984, 136 (01) : 223 - 234