THE HURLER SYNDROME - DETECTION OF PATIENTS AND HETEROZYGOTES USING A MICRO-ASSAY FOR ALPHA-L-IDURONIDASE IN FIBROBLASTS

被引:4
作者
KLEIJER, WJ
HENSINGWOLFFERS, GM
THOMPSON, EJ
NIERMEIJER, MF
机构
关键词
D O I
10.1016/0009-8981(81)90167-4
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
引用
收藏
页码:47 / 54
页数:8
相关论文
共 20 条
[1]   DEFECT IN HURLER AND SCHEIE SYNDROMES - DEFICIENCY OF ALPHA-IDURONIDASE [J].
BACH, G ;
WEISSMAN.B ;
FRIEDMAN, R ;
NEUFELD, EF .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1972, 69 (08) :2048-&
[2]  
DEJONG JED, 1980, ANAL BIOCHEM, V106, P397
[3]   DETECTION OF CARRIER STATE OF HURLERS SYNDROME BY ASSAY OF ALPHA-L-IDURONIDASE IN LEUKOCYTES [J].
DULANEY, JT ;
MILUNSKY, A ;
MOSER, HW .
CLINICA CHIMICA ACTA, 1976, 69 (02) :305-310
[4]   ALPHA-L-IDURONIDASE ACTIVITY IN CULTURED SKIN FIBROBLASTS AND AMNIOTIC-FLUID CELLS [J].
HALL, CW ;
NEUFELD, EF .
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1973, 158 (02) :817-821
[5]   VARIATION IN LYSOSOMAL ENZYME-ACTIVITY DURING GROWTH IN CULTURE OF HUMAN FIBROBLASTS AND AMNIOTIC-FLUID CELLS [J].
HEUKELSDULLY, MJ ;
NIERMEIJER, MF .
EXPERIMENTAL CELL RESEARCH, 1976, 97 (02) :304-312
[6]   FLUOROMETRIC ASSAY USING 4-METHYLUMBELLIFERYL ALPHA-L-IDURONIDE FOR THE ESTIMATION OF ALPHA-L-IDURONIDASE ACTIVITY AND THE DETECTION OF HURLER AND SCHEIE SYNDROMES [J].
HOPWOOD, JJ ;
MULLER, V ;
SMITHSON, A ;
BAGGETT, N .
CLINICA CHIMICA ACTA, 1979, 92 (02) :257-265
[7]   FLUOROMETRIC MEASUREMENT OF URINARY ALPHA-L-IDURONIDASE ACTIVITY [J].
ISEMURA, M ;
KOSAKA, H ;
IKENAKA, T ;
KIDO, R ;
YOSHIMURA, T .
JOURNAL OF BIOCHEMISTRY, 1978, 84 (03) :627-632
[8]  
KELLY TE, 1976, I J MED GENET, V13, P149
[9]  
Kleijer W J, 1978, Monogr Hum Genet, V9, P217
[10]   RAPID PRENATAL DIAGNOSIS OF GM1-GANGLIOSIDOSIS USING MICROCHEMICAL METHODS [J].
KLEIJER, WJ ;
VANDERVEER, E ;
NIERMEIJER, MF .
HUMAN GENETICS, 1976, 33 (03) :299-305