PSEUDO ARYLSULFATASE A DEFICIENCY - EVIDENCE FOR A STRUCTURALLY ALTERED ENZYME

被引:41
作者
FLUHARTY, AL
MEEK, WE
KIHARA, H
机构
关键词
D O I
10.1016/0006-291X(83)91815-6
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
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页码:191 / 197
页数:7
相关论文
共 22 条
[1]   SYNTHESIS AND MATURATION OF CROSS-REACTIVE GLYCOPROTEIN IN FIBROBLASTS DEFICIENT IN ARYLSULFATASE A ACTIVITY [J].
BACH, G ;
NEUFELD, EF .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1983, 112 (01) :198-205
[2]   THE ASSAY OF ARYLSULPHATASE-A AND ARYLSULPHATASE-B IN HUMAN URINE [J].
BAUM, H ;
DODGSON, KS ;
SPENCER, B .
CLINICA CHIMICA ACTA, 1959, 4 (03) :453-455
[3]  
CHANG PL, 1982, AM J HUM GENET, V34, pA48
[4]  
DUBOIS G, 1975, NEW ENGL J MED, V293, P302
[5]  
DUBOIS G, 1977, AM J HUM GENET, V29, P191
[6]   CEREBROSIDE SULFATE HYDROLYSIS BY FIBROBLASTS FROM A PARENT WITH METACHROMATIC LEUKODYSTROPHY [J].
FLUHARTY, AL ;
STEVENS, RL ;
KIHARA, H .
JOURNAL OF PEDIATRICS, 1978, 92 (05) :782-784
[7]   MUTATIONS OF GLUCOCEREBROSIDASE - DISCRIMINATION OF NEUROLOGIC AND NON-NEUROLOGIC PHENOTYPES OF GAUCHER DISEASE [J].
GINNS, EI ;
BRADY, RO ;
PIRRUCCELLO, S ;
MOORE, C ;
SORRELL, S ;
FURBISH, FS ;
MURRAY, GJ ;
TAGER, J ;
BARRANGER, JA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (18) :5607-5610
[8]   PRENATAL-DIAGNOSIS OF PSEUDO ARYLSULFATASE-A DEFICIENCY [J].
KIHARA, H ;
FLUHARTY, AL ;
TSAY, KK ;
BACHMAN, RP ;
STEPHENS, JD ;
NG, WG .
PRENATAL DIAGNOSIS, 1983, 3 (01) :29-34
[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]  
KIHARA H, 1982, AM J HUM GENET, V34, P171