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

页码：233 / 243

页数：11

共 41 条

[11] COMPARATIVE-STUDY OF 15 LYSOSOMAL-ENZYMES IN CHORIONIC VILLI AND CULTURED AMNIOTIC-FLUID CELLS - EARLY PRENATAL-DIAGNOSIS IN 7 PREGNANCIES AT RISK FOR LYSOSOMAL STORAGE DISEASES [J].

GATTI, R ;

LOMBARDO, C ;

FILOCAMO, M ;

BORRONE, C ;

PORRO, E .

PRENATAL DIAGNOSIS, 1985, 5 (05) :329-336

[12] PRENATAL-DIAGNOSIS OF MUCOPOLYSACCHARIDOSIS-I - A SPECIAL DIFFICULTY ARISING FROM AN UNUSUALLY LOW ENZYME-ACTIVITY IN MOTHERS CELLS [J].

GATTI, R ;

BORRONE, C ;

FILOCAMO, M ;

PANNONE, N ;

DINATALE, P .

PRENATAL DIAGNOSIS, 1985, 5 (02) :149-154

[13] BETA-GLUCURONIDASE DEFICIENCY MUCOPOLYSACCHARIDOSIS - STUDIES IN CULTURED FIBROBLASTS [J].

HALL, CW ;

CANTZ, M ;

NEUFELD, EF .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1973, 155 (01) :32-38

[14]

HOBBS JR, 1981, LANCET, V2, P709

[15] HURLER-SCHEIE PHENOTYPE - REPORT OF 2 PAIRS OF INBRED SIBS [J].

KAIBARA, N ;

EGUCHI, M ;

SHIBATA, K ;

TAKAGISHI, K .

HUMAN GENETICS, 1979, 53 (01) :37-41

[16] 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

[17] THE HURLER SYNDROME - DETECTION OF PATIENTS AND HETEROZYGOTES USING A MICRO-ASSAY FOR ALPHA-L-IDURONIDASE IN FIBROBLASTS [J].

KLEIJER, WJ ;

HENSINGWOLFFERS, GM ;

THOMPSON, EJ ;

NIERMEIJER, MF .

CLINICA CHIMICA ACTA, 1981, 116 (01) :47-54

[18] PRENATAL-DIAGNOSIS OF THE HURLER SYNDROME - REPORT ON 40 PREGNANCIES AT RISK [J].

KLEIJER, WJ ;

THOMPSON, EJ ;

NIERMEIJER, MF .

PRENATAL DIAGNOSIS, 1983, 3 (03) :179-186

[19]

LEE TY, 1974, BIOCHIM BIOPHYS ACTA, V354, P264

[20]

MCKUSICK VA, 1983, METABOLIC BASIS INHE, P751

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