DETECTION OF CARRIER STATE OF HURLERS SYNDROME BY ASSAY OF ALPHA-L-IDURONIDASE IN LEUKOCYTES

被引:13
作者
DULANEY, JT
MILUNSKY, A
MOSER, HW
机构
[1] WALTER E FERNALD STATE SCH EUNICE KENNEDY SHRIVER CTR,WALTHAM,MA 02154
[2] MASSACHUSETTS GEN HOSP,BOSTON,MA 02114
关键词
D O I
10.1016/0009-8981(76)90509-X
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:305 / 310
页数:6
相关论文
共 16 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]  
BARTON RW, 1971, J BIOL CHEM, V246, P7773
[3]   INTRAUTERINE DIAGNOSIS OF HURLER AND HUNTER SYNDROMES [J].
FRATANTO.JC ;
NEUFELD, EF ;
UHLENDOR.BW ;
JACOBSON, CB .
NEW ENGLAND JOURNAL OF MEDICINE, 1969, 280 (13) :686-&
[4]   DEFECT IN HURLER AND HUNTER SYNDROMES, .2. DEFICIENCY OF SPECIFIC FACTORS INVOLVED IN MUCOPOLYSACCHARIDE DEGRADATION [J].
FRATANTO.JC ;
HALL, CW ;
NEUFELD, EF .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1969, 64 (01) :360-&
[5]   DEFECT IN HURLERS AND HUNTERS SYNDROMES - FAULTY DEGRADATION OF MUCOPOLYSACCHARIDE [J].
FRATANTONI, JC ;
HALL, CW ;
NEUFELD, EF .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1968, 60 (02) :699-+
[6]   PHENYL ALPHA-L-IDOPYRANOSIDURONIC AND BETA-L-IDOPYRANOSIDURONIC ACIDS AND SOME OTHER ARYL GLYCOPYRANOSIDURONIC ACIDS [J].
FRIEDMAN, RB ;
WEISSMANN, B .
CARBOHYDRATE RESEARCH, 1972, 24 (01) :123-+
[7]   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
[8]   USE OF ALPHA-L-IDURONIDASE ACTIVITY DETERMINATIONS IN LEUKOCYTES FOR DETECTION OF HURLER AND SCHEIE SYNDROMES [J].
LIEM, KO ;
HOOGHWINKEL, GJM .
CLINICA CHIMICA ACTA, 1975, 60 (02) :259-262
[9]   HURLERS SYNDROME, AN ALPHA-L-IDURONIDASE DEFICIENCY [J].
MATALON, R ;
DORFMAN, A .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1972, 47 (04) :959-&
[10]   L-IDURONIDASE IN CULTURED HUMAN FIBROBLASTS AND LIVER [J].
MATALON, R ;
CIFONELLI, JA ;
DORFMAN, A .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1971, 42 (02) :340-+