1ST TRIMESTER DIAGNOSIS OF GAUCHER DISEASE IN A FETUS WITH TRISOMY-21

[1] STUDIES ON SPHINGOMYELINASE AND BETA-GLUCOSIDASE ACTIVITIES IN NIEMANN-PICK DISEASE VARIANTS - PHOSPHODIESTERASE ACTIVITIES MEASURED WITH NATURAL AND ARTIFICIAL SUBSTRATES [J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 752 (01) : 54 - 64

[2] Brady R. O., 1983, METABOLIC BASIS INHE, P842

[3] PRENATAL-DIAGNOSIS OF ZELLWEGERS SYNDROME BY CHORIONIC VILLUS SAMPLING AND A CAVEAT [J]. PRENATAL DIAGNOSIS, 1986, 6 (03) : 227 - 229

[4] COLEMAN DV, 1985, 1ST TRIMESTER FETAL, P147

[5] DESNICK RJ, 1982, PROG CLIN BIOL RES, V95

[6] FERGUSONSMITH ME, 1984, PRENAT DIAGN GROUP N, V8, P13

[7] GALJAARD H, 1987, HUM GENET, P611

[8] HARNDEN DG, 1960, BRIT J EXP PATHOL, V41, P31

[9] LOWRY OH, 1951, J BIOL CHEM, V193, P265

[10] SCHNEIDER EL, 1972, J PEDIATR-US, V81, P1134

[1] STUDIES ON SPHINGOMYELINASE AND BETA-GLUCOSIDASE ACTIVITIES IN NIEMANN-PICK DISEASE VARIANTS - PHOSPHODIESTERASE ACTIVITIES MEASURED WITH NATURAL AND ARTIFICIAL SUBSTRATES [J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 752 (01) : 54 - 64

[2] Brady R. O., 1983, METABOLIC BASIS INHE, P842

[3] PRENATAL-DIAGNOSIS OF ZELLWEGERS SYNDROME BY CHORIONIC VILLUS SAMPLING AND A CAVEAT [J]. PRENATAL DIAGNOSIS, 1986, 6 (03) : 227 - 229

[4] COLEMAN DV, 1985, 1ST TRIMESTER FETAL, P147

[5] DESNICK RJ, 1982, PROG CLIN BIOL RES, V95

[6] FERGUSONSMITH ME, 1984, PRENAT DIAGN GROUP N, V8, P13

[7] GALJAARD H, 1987, HUM GENET, P611

[8] HARNDEN DG, 1960, BRIT J EXP PATHOL, V41, P31

[9] LOWRY OH, 1951, J BIOL CHEM, V193, P265

[10] SCHNEIDER EL, 1972, J PEDIATR-US, V81, P1134