PRENATAL-DIAGNOSIS OF PSEUDO ARYLSULFATASE-A DEFICIENCY

被引:12
作者
KIHARA, H
FLUHARTY, AL
TSAY, KK
BACHMAN, RP
STEPHENS, JD
NG, WG
机构
[1] KAISER PERMANENTE MED CTR,DIV MED GENET,OAKLAND,CA 94611
[2] UNIV CALIF SAN FRANCISCO,SCH MED,DEPT OBSTET GYNECOL & REPROD SCI,SAN FRANCISCO,CA 94143
[3] UNIV SO CALIF,SCH MED,DEPT PEDIAT,LOS ANGELES,CA 90033
[4] CHILDRENS HOSP,DIV MED GENET,LOS ANGELES,CA 90027
关键词
D O I
10.1002/pd.1970030106
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:29 / 34
页数:6
相关论文
共 19 条
[1]   METACHROMATIC LEUKODYSTROPHY (MLD) .8. MLD IN ADULTS - DIAGNOSIS AND PATHOGENESIS [J].
AUSTIN, J ;
ARMSTRON.D ;
FOUCH, S ;
MITCHELL, C ;
STUMPF, D ;
SHEARER, L ;
BRINER, O .
ARCHIVES OF NEUROLOGY, 1968, 18 (03) :225-&
[3]   A CONTROLLED STUDY OF ENZYMIC ACTIVITIES IN 3 HUMAN DISORDERS OF GLYCOLIPID METABOLISM [J].
AUSTIN, JH ;
BALASUBRAMANIAN, AS ;
BACHHAWAT, BK ;
BASU, DK ;
SARASWATHI, S ;
PATTABIRAMAN, TN .
JOURNAL OF NEUROCHEMISTRY, 1963, 10 (11) :805-&
[4]   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
[5]  
BUTTERWORTH J, 1978, CLIN GENET, V14, P213
[6]  
DUBOIS G, 1975, NEW ENGL J MED, V293, P302
[7]   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
[8]   SIMPLIFIED PROCEDURE FOR PREPARATION OF S-35-LABELED BRAIN SULFATIDE [J].
FLUHARTY, AL ;
DAVIS, ML ;
KIHARA, H ;
KRITCHEVSKY, G .
LIPIDS, 1974, 9 (11) :865-869
[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, 1980, PEDIATR RES, V14, P890