KRABBES GLOBOID-CELL LEUCODYSTROPHY - STUDIES ON GALACTOSYLCERAMIDE BETA-GALACTOSIDASE AND NONSPECIFIC BETA-GALACTOSIDASE OF LEUKOCYTES, CULTURED SKIN FIBROBLASTS, AND AMNIOTIC-FLUID CELLS

被引：12
作者：
BESLEY, GTN
BAIN, AD
机构：
[1] ROY HOSP SICK CHILDREN,DEPT PATHOL,EDINBURGH EH9 1LF,SCOTLAND
[2] UNIV EDINBURGH,EDINBURGH EH10 5HF,SCOTLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1976年 / 13卷 / 03期
关键词：
D O I：
10.1136/jmg.13.3.195
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：195 / 199
页数：5
相关论文
共 23 条
[1]   SPHINGOLIPID HYDROLASES IN BRAIN TISSUE OF PATIENTS WITH GENERALIZED GANG-LIODOSIS [J].
BRADY, RO ;
OBRIEN, JS ;
BRADLEY, RM ;
GAL, AE .
BIOCHIMICA ET BIOPHYSICA ACTA, 1970, 210 (01) :193-&
[2]   LYSOSOMAL ENZYMES OF CULTURED AMNIOTIC-FLUID CELLS [J].
BUTTERWORTH, J ;
SUTHERLAND, GR ;
BROADHEAD, DM ;
BAIN, AD .
CLINICA CHIMICA ACTA, 1973, 44 (03) :295-299
[3]   CYSTIC-FIBROSIS AND LIVER BETA-GALACTOSIDASE AND BETA-GLUCOSIDASE [J].
BUTTERWORTH, J ;
BAIN, AD ;
MCCRAE, WM .
CLINICA CHIMICA ACTA, 1972, 41 (01) :367-+
[4]   ISOENZYMES OF SPHINGOMYELINASE AND GENETIC DEFECT IN NIEMANN-PICK DISEASE, TYPE-C [J].
CALLAHAN, JW ;
KHALIL, M ;
GERRIE, J .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1974, 58 (02) :384-390
[5]  
FARRELL DF, 1973, AM J HUM GENET, V25, P604
[6]  
GODSON GN, 1970, ANAL BIOCHEM, V35, P66
[7]   HYDROLYSIS OF GM1-GANGLIOSIDE BY HUMAN LIVER BETA-GALACTOSIDASE ISOENZYMES [J].
HO, MW ;
CHEETHAM, P ;
ROBINSON, D .
BIOCHEMICAL JOURNAL, 1973, 136 (02) :351-359
[8]  
HULTBERG B, 1970, Journal of Clinical Investigation, V49, P216, DOI 10.1172/JCI106230
[9]   INVITRO RESTORATION OF DEFICIENT BETA-GALACTOSIDASE ACTIVITY IN LIVER OF PATIENTS WITH HURLER AND HUNTER DISEASE [J].
KINT, JA .
NATURE, 1974, 250 (5465) :424-425
[10]   PROTEIN DETERMINATION FOR LARGE NUMBERS OF SAMPLES [J].
MILLER, GL .
ANALYTICAL CHEMISTRY, 1959, 31 (05) :964-964
123