A NONPATHOLOGIC ALLELE (IW) FOR LOW ALPHA-L-IDURONIDASE ENZYME-ACTIVITY VIS-A-VIS PRENATAL-DIAGNOSIS OF HURLER SYNDROME

被引:26
作者
WHITLEY, CB
GORLIN, RJ
KRIVIT, W
机构
[1] UNIV MINNESOTA,DEPT ORAL PATHOL & GENET,MINNEAPOLIS,MN 55455
[2] UNIV MINNESOTA,DEPT PEDIAT,SKELETAL DYSPLASIA PROGRAM,MINNEAPOLIS,MN 55455
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1987年 / 28卷 / 01期
关键词
D O I
10.1002/ajmg.1320280136
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:233 / 243
页数:11
相关论文
共 41 条
[1]   KINETIC AND IMMUNOCHEMICAL CHARACTERIZATION OF LOW-ACTIVITY SERUM ALPHA-L-FUCOSIDASE FROM A PHENOTYPICALLY NORMAL INDIVIDUAL [J].
ALHADEFF, JA ;
ANDREWSSMITH, GL .
BIOCHEMICAL MEDICINE, 1978, 20 (03) :357-363
[2]   CULTURED AMNIOTIC-FLUID CELLS FOR PRENATAL-DIAGNOSIS OF LYSOSOMAL STORAGE DISORDERS - A METHODOLOGICAL STUDY [J].
ARNON, J ;
ORNOY, A ;
BACH, G .
PRENATAL DIAGNOSIS, 1986, 6 (05) :351-361
[3]   LYSOSOMAL-ENZYME ACTIVITIES IN FRESH AND FROZEN CHORIONIC VILLI AND IN CULTURED TROPHOBLASTS [J].
BENYOSEPH, Y ;
EVANS, MI ;
BOTTOMS, SF ;
PACK, BA ;
MITCHELL, DA ;
KOPPITCH, FC ;
NADLER, HL .
CLINICA CHIMICA ACTA, 1986, 161 (03) :307-313
[4]  
Bernlohr R W, 1973, Birth Defects Orig Artic Ser, V9, pxi
[5]  
BRADFORD MM, 1976, ANAL BIOCHEM, V72, P248, DOI 10.1016/0003-2697(76)90527-3
[6]  
DENTANDT WR, 1984, LANCET, V1, P794
[7]   MEASUREMENT OF URINARY MUCOPOLYSACCHARIDES [J].
DIFERRAN.NM .
ANALYTICAL BIOCHEMISTRY, 1967, 21 (01) :98-&
[8]   ABSENCE OF HEXOSAMINIDASE-A AND HEXOSAMINIDASE-B IN A NORMAL ADULT [J].
DREYFUS, JC ;
POENARU, L ;
SVENNERHOLM, L .
NEW ENGLAND JOURNAL OF MEDICINE, 1975, 292 (02) :61-63
[9]  
DUBOIS G, 1975, NEW ENGL J MED, V293, P302
[10]  
DUBOIS G, 1977, AM J HUM GENET, V29, P191