METABOLISM OF CERAMIDE TRIHEXOSIDE IN CULTURED SKIN FIBROBLASTS FROM FABRYS PATIENTS, CARRIERS AND NORMAL CONTROLS

被引:15
作者
KOBAYASHI, T
SHINNOH, N
KUROIWA, Y
机构
关键词
D O I
10.1016/0022-510X(84)90081-9
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:169 / 177
页数:9
相关论文
共 24 条
[1]  
AVILA JL, 1973, BRIT J DERMATOL, V89, P149
[2]  
BACH G, 1982, CLIN GENET, V21, P59
[3]   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-&
[4]  
CABLE WJL, 1982, NEUROLOGY, V32, P1139
[5]  
DESNICK RJ, 1973, J LAB CLIN MED, V81, P157
[6]  
DESNICK RJ, 1983, METABOLIC BASIS INHE, P906
[7]  
FOLCH J, 1957, J BIOL CHEM, V226, P497
[8]   A VARIANT FORM OF METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE DEFICIENCY [J].
HAHN, AF ;
GORDON, BA ;
FELEKI, V ;
HINTON, GG ;
GILBERT, JJ .
ANNALS OF NEUROLOGY, 1982, 12 (01) :33-36
[9]   PRENATAL-DIAGNOSIS OF METACHROMATIC LEUKODYSTROPHY IN A FAMILY WITH PSEUDO ARYLSULFATASE A DEFICIENCY BY THE CEREBROSIDE SULFATE LOADING TEST [J].
KIHARA, H ;
HO, CK ;
FLUHARTY, AL ;
TSAY, KK ;
HARTLAGE, PL .
PEDIATRIC RESEARCH, 1980, 14 (03) :224-227
[10]  
KINT J A, 1970, Science (Washington D C), V167, P1268, DOI 10.1126/science.167.3922.1268