PRENATAL-DIAGNOSIS OF THE HURLER SYNDROME - REPORT ON 40 PREGNANCIES AT RISK

被引:7
作者
KLEIJER, WJ
THOMPSON, EJ
NIERMEIJER, MF
机构
关键词
D O I
10.1002/pd.1970030302
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
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页码:179 / 186
页数:8
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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]   NEUROCHEMISTRY OF MUCOPOLYSACCHARIDOSES - BRAIN LIPIDS AND LYSOSOMAL ENZYMES IN PATIENTS WITH 4 TYPES OF MUCOPOLYSACCHARIDOSIS AND IN NORMAL CONTROLS [J].
CONSTANTOPOULOS, G ;
DEKABAN, AS .
JOURNAL OF NEUROCHEMISTRY, 1978, 30 (05) :965-973
[3]   EARLY PRENATAL DIAGNOSIS OF HURLERS SYNDROME WITH TERMINATION OF PREGNANCY AND CONFIRMATORY FINDINGS ON FETUS [J].
CRAWFURD, MD ;
DEAN, MF ;
HUNT, DM ;
JOHNSON, DR ;
MACDONALD, RR ;
MUIR, H ;
PAYLINGW.EA ;
PAYLINGW.CR .
JOURNAL OF MEDICAL GENETICS, 1973, 10 (02) :144-153
[4]   PERICELLULAR GLYCOSAMINOGLYCANS IN CULTURED HUMAN CELLS - POSSIBLE SOURCE OF ERROR IN PRENATAL DIAGNOSIS OF MUCOPOLYSACCHARIDOSES [J].
FORTUIN, JJH ;
KLEIJER, WJ .
CLINICA CHIMICA ACTA, 1978, 82 (1-2) :79-83
[5]   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-&
[6]  
GALJAARD H, 1980, GENETIC METABOLIC DI, P790
[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]  
HENDERSON HE, 1977, S AFR MED J, V51, P241
[9]   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
[10]   PRENATAL-DIAGNOSIS OF HURLERS SYNDROME - BIOCHEMICAL-STUDIES ON THE AFFECTED FETUS [J].
IKENO, T ;
MINAMI, R ;
WAGATSUMA, K ;
FUJIBAYASHI, S ;
NAKAO, T ;
ABO, K ;
TSUGAWA, S ;
TANIGUCHI, S ;
TAKASAGO, Y .
HUMAN GENETICS, 1981, 59 (04) :353-359