INHERITED METABOLIC STORAGE DISORDERS

被引：13
作者：
BRADY, RO
机构：
来源：
ANNUAL REVIEW OF NEUROSCIENCE | 1982年 / 5卷
关键词：
D O I：
10.1146/annurev.ne.05.030182.000341
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
引用
收藏
页码：33 / 56
页数：24
相关论文
共 98 条
[31]  
DESNICK SJ, 1973, ENZYME THERAPY GENET, P109
[32]  
EPSTEIN CJ, 1971, AM J HUM GENET, V23, P533
[33]  
Farrell D F, 1981, Ann Neurol, V9, P225, DOI 10.1002/ana.410090304
[34]   GM1 GANGLIOSIDOSIS - ENZYMATIC VARIATION IN A SINGLE FAMILY [J].
FARRELL, DF ;
MACMARTIN, MP .
ANNALS OF NEUROLOGY, 1981, 9 (03) :232-236
[35]   PRACTICAL CHROMOGENIC PROCEDURE FOR DIAGNOSIS OF KRABBES DISEASE [J].
GAL, AE ;
BRADY, RO ;
PENTCHEV, PG ;
FURBISH, FS ;
SUZUKI, K ;
TANAKA, H ;
SCHNEIDER, EL .
CLINICA CHIMICA ACTA, 1977, 77 (01) :53-59
[36]   THE DIAGNOSIS OF TYPE-A AND TYPE-B NIEMANN-PICK DISEASE AND DETECTION OF CARRIERS USING LEUKOCYTES AND A CHROMOGENIC ANALOG OF SPHINGOMYELIN [J].
GAL, AE ;
BRADY, RO ;
BARRANGER, JA ;
PENTCHEV, PG .
CLINICA CHIMICA ACTA, 1980, 104 (01) :129-132
[37]   SYNTHESIS OF 2-N-(HEXADECANOYL)-AMINO-4-NITROPHENYL PHOSPHORYLCHOLINE-HYDROXIDE, A CHROMOGENIC SUBSTRATE FOR ASSAYING SPHINGOMYELINASE ACTIVITY [J].
GAL, AE ;
FASH, FJ .
CHEMISTRY AND PHYSICS OF LIPIDS, 1976, 16 (01) :71-79
[38]   PRACTICAL CHROMOGENIC PROCEDURE FOR DETECTION OF HOMOZYGOTES AND HETEROZYGOUS CARRIERS OF NIEMANN-PICK DISEASE [J].
GAL, AE ;
BRADY, RO ;
HIBBERT, SR ;
PENTCHEV, PG .
NEW ENGLAND JOURNAL OF MEDICINE, 1975, 293 (13) :632-636
[39]  
GIBBS DA, 1980, ENZYME THERAPY GENET, V2, P457
[40]   A NEW GROUP OF GLUCOCEREBROSIDASE ISOZYMES FOUND IN HUMAN WHITE BLOOD-CELLS [J].
GINNS, EI ;
BRADY, RO ;
STOWENS, DW ;
FURBISH, FS ;
BARRANGER, JA .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1980, 97 (03) :1103-1107
12345678910