REPLACEMENT THERAPY FOR INHERITED ENZYME DEFICIENCY - USE OF PURIFIED GLUCOCEREBROSIDASE IN GAUCHERS-DISEASE

被引:233
作者
BRADY, RO [1 ]
PENTCHEV, PG [1 ]
GAL, AE [1 ]
HIBBERT, SR [1 ]
DEKABAN, AS [1 ]
机构
[1] NINDS,DEV & METAB NEUROL BRANCH,BLDG 10,RM 3003,BETHESDA,MD 20014
关键词
D O I
10.1056/NEJM197411072911901
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:989 / 993
页数:5
相关论文
共 22 条
[1]   IDENTIFICATION OF HETEROZYGOUS CARRIERS OF LIPID STORAGE DISEASES - CURRENT STATUS AND CLINICAL APPLICATIONS [J].
BRADY, RO ;
JOHNSON, WG ;
UHLENDORF, BW .
AMERICAN JOURNAL OF MEDICINE, 1971, 51 (04) :423-+
[2]   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-&
[3]   DEMONSTRATION OF A DEFICIENCY OF GLUCOCEREBROSIDE-CLEAVING ENZYME IN GAUCHERS DISEASE [J].
BRADY, RO ;
KANFER, JN ;
BRADLEY, RM ;
SHAPIRO, D .
JOURNAL OF CLINICAL INVESTIGATION, 1966, 45 (07) :1112-&
[4]   SPHINGOLIPIDOSES [J].
BRADY, RO .
NEW ENGLAND JOURNAL OF MEDICINE, 1966, 275 (06) :312-&
[5]   REPLACEMENT THERAPY FOR INHERITED ENZYME DEFICIENCY - USE OF PURIFIED CERAMIDETRIHEXOSIDASE IN FABRYS-DISEASE [J].
BRADY, RO ;
TALLMAN, JF ;
JOHNSON, WG ;
GAL, AE ;
LEAHY, WR ;
QUIRK, JM ;
DEKABAN, AS .
NEW ENGLAND JOURNAL OF MEDICINE, 1973, 289 (01) :9-14
[6]  
BRADY RO, 1965, J BIOL CHEM, V240, P39
[7]  
DAWSON G, 1970, J BIOL CHEM, V245, P410
[8]  
Desnick S J, 1973, Birth Defects Orig Artic Ser, V9, P109
[9]  
FOLCH J, 1957, J BIOL CHEM, V226, P497
[10]   SEPARATION AND IDENTIFICATION OF MONOSACCHARIDES FROM BIOLOGICAL MATERIALS BY THIN-LAYER CHROMATOGRAPHY [J].
GAL, AE .
ANALYTICAL BIOCHEMISTRY, 1968, 24 (03) :452-&