RESIDUAL ACTIVITY OF ALPHA-GALACTOSIDASE A IN FABRYS-DISEASE

被引:46
作者
ROMEO, G [1 ]
DURSO, M [1 ]
PISACANE, A [1 ]
BLUM, E [1 ]
DEFALCO, A [1 ]
RUFFILLI, A [1 ]
机构
[1] CNR,INT INST GENET & BIOPHYS,NAPLES,ITALY
关键词
D O I
10.1007/BF00484919
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:615 / 628
页数:14
相关论文
共 21 条
[1]  
BEUTLER E, 1972, AM J HUM GENET, V24, P237
[2]  
BEUTLER E, 1972, J BIOL CHEM, V247, P7195
[3]   RELATIONSHIP BETWEEN HUMAN ALPHA-GALACTOSIDASE ISOENZYMES [J].
BEUTLER, E ;
KUHL, W .
NATURE-NEW BIOLOGY, 1972, 239 (94) :207-&
[4]  
BEUTLER E, 1972, NEW ENGL J MED, V289, P694
[5]   ENZYMATIC DEFECT IN FABRYS DISEASE - CERAMIDETRIHEXOSIDASE DEFICIENCY [J].
BRADY, RO ;
GAL, AE ;
BRADLEY, RM ;
MARTENSS.E ;
WARSHAW, AL ;
LASTER, L .
NEW ENGLAND JOURNAL OF MEDICINE, 1967, 276 (21) :1163-&
[6]  
BRADY RO, 1973, NEW ENGL J MED, V289, P3
[7]   CERAMIDE TRIHEXOSIDOSIS (FABRYS DISEASE) WITHOUT SKIN LESIONS [J].
CLARKE, JTR ;
KNAACK, J ;
CRAWHALL, JC ;
WOLFE, LS .
NEW ENGLAND JOURNAL OF MEDICINE, 1971, 284 (05) :233-&
[8]   X-LINKAGE OF HUMAN ALPHA-GALACTOSIDASE [J].
GRZESCHIK, KH ;
GRZESCHIK, AM ;
ROMEO, G ;
VANSOMER.H ;
SINISCALCO, M ;
WESTERVELD, A ;
BANHOF, S ;
BOOTSMA, D ;
KHAN, PM .
NATURE-NEW BIOLOGY, 1972, 240 (97) :48-+
[9]  
HO MW, 1972, AM J HUM GENET, V24, P256
[10]  
HUMPHREY JH, 1957, LANCET, V1, P196