REPLACEMENT THERAPY FOR INHERITED ENZYME DEFICIENCY - USE OF PURIFIED CERAMIDETRIHEXOSIDASE IN FABRYS-DISEASE

被引:235
作者
BRADY, RO [1 ]
TALLMAN, JF [1 ]
JOHNSON, WG [1 ]
GAL, AE [1 ]
LEAHY, WR [1 ]
QUIRK, JM [1 ]
DEKABAN, AS [1 ]
机构
[1] NINDS,DEV METAB NEUROL BRANCH,BETHESDA,MD 20014
关键词
D O I
10.1056/NEJM197307052890103
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:9 / 14
页数:6
相关论文
共 30 条
[1]   ACTIVATION OF VARIANTS OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE BY NORMAL ENZYME [J].
BAKAY, B ;
NYHAN, WL .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1972, 69 (09) :2523-&
[2]   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-&
[3]  
BRADY RO, 1967, J BIOL CHEM, V242, P1021
[4]   FABRYS DISEASE - ANTENATAL DETECTION [J].
BRADY, RO ;
UHLENDORF, BW ;
JACOBSON, CB .
SCIENCE, 1971, 172 (3979) :174-+
[5]   SIMULTANEOUS ESTIMATION OF 6-DEOXY-L-GALACTOSE (L-FUCOSE) D-MANNOSE D-GALACTOSE 2-ACETAMIDO-2-DEOXY-D-GLUCOSE (N-ACETYL-D-GLUCOSAMINE) AND N-ACETYLNEURAMINIC ACID (SIALIC ACID) IN GLYCOPEPTIDES AND GLYCOPROTEINS [J].
CLAMP, JR ;
DAWSON, G ;
HOUGH, L .
BIOCHIMICA ET BIOPHYSICA ACTA, 1967, 148 (02) :342-&
[6]   ENZYME REPLACEMENT THERAPY BY RENAL ALLOTRANSPLANTATION IN FABRYS-DISEASE [J].
CLARKE, JTR ;
WOLFE, LS ;
BEAUDOIN, JG ;
GUTTMANN, RD ;
MOREHOUSE, DD .
NEW ENGLAND JOURNAL OF MEDICINE, 1972, 287 (24) :1215-+
[7]  
DAWSON G, 1970, J BIOL CHEM, V245, P410
[8]   FUNCTIONS OF LYSOSOMES [J].
DEDUVE, C ;
WATTIAUX, R .
ANNUAL REVIEW OF PHYSIOLOGY, 1966, 28 :435-+
[9]  
DEKABAN AS, 1972, PEDIATRICS, V50, P688
[10]  
DESNICK RJ, 1972, SURGERY, V72, P203