PRENATAL ANALYSES IN A PREGNANCY AT RISK FOR BETA-MANNOSIDOSIS

被引：4

作者：

KLEIJER, WJ ^{[1
]}

GEILEN, GC ^{[1
]}

VANDIGGELEN, OP ^{[1
]}

WEVERS, RA ^{[1
]}

LOS, FJ ^{[1
]}

机构：

[1] UNIV HOSP NIJMEGEN,INST NEUROL,NIJMEGEN,NETHERLANDS

来源：

PRENATAL DIAGNOSIS | 1992年 / 12卷 / 10期

关键词：

PRENATAL DIAGNOSIS; BETA-MANNOSIDOSIS; BETA-MANNOSIDASE DEFICIENCY;

D O I：

10.1002/pd.1970121011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Prenatal analyses were performed in the pregnancy of the mother of a patient with beta-mannosidase deficiency. Partial deficiency of beta-mannosidase activity in the chorionic villi indicated a heterozygous fetus and this first-trimester diagnosis was subsequently confirmed by amniocentesis.

引用

页码：841 / 843

页数：3

共 50 条

[31] ULTRASTRUCTURAL CHARACTERISTICS OF THE CEREBELLUM IN CAPRINE BETA-MANNOSIDOSIS
LOVELL, KL
JONES, MZ
MICRON AND MICROSCOPICA ACTA, 1983, 14 (03): : 259 - 259
[32] THYROID STRUCTURE AND FUNCTION IN BOVINE BETA-MANNOSIDOSIS
LOVELL, KL
JONES, MZ
PATTERSON, J
ABBITT, B
CASTENSON, P
JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (02) : 228 - 230
[33] CAPRINE BETA-MANNOSIDOSIS IN KIDS FROM AN ONTARIO HERD
SHAPIRO, JL
ROSTKOWSKI, C
LITTLE, PB
SMITHMAXIE, L
JULIAN, RJ
VANDREUMEL, AA
CANADIAN VETERINARY JOURNAL-REVUE VETERINAIRE CANADIENNE, 1985, 26 (05): : 155 - 158
[34] CAPRINE BETA-MANNOSIDOSIS - STRUCTURE OF ACCUMULATED KIDNEY OLIGOSACCHARIDES
MATSUURA, F
LAINE, RA
JONES, MZ
FEDERATION PROCEEDINGS, 1981, 40 (06) : 1596 - 1596
[35] BETA-MANNOSIDOSIS IN 2 BROTHERS WITH HEARING-LOSS
DORLAND, L
DURAN, M
HOEFNAGELS, FET
BREG, JN
DEJONGE, HF
CRANSBERG, K
VANSPRANG, FJ
VANDIGGELEN, OP
JOURNAL OF INHERITED METABOLIC DISEASE, 1988, 11 : 255 - 258
[36] AXONAL AND MYELIN LESIONS IN BETA-MANNOSIDOSIS - ULTRASTRUCTURAL CHARACTERISTICS
LOVELL, KL
JONES, MZ
ACTA NEUROPATHOLOGICA, 1985, 65 (3-4) : 293 - 299
[37] CAPRINE BETA-MANNOSIDOSIS - INHERITED DEFICIENCY OF BETA-D-MANNOSIDASE
JONES, MZ
DAWSON, G
JOURNAL OF BIOLOGICAL CHEMISTRY, 1981, 256 (10) : 5185 - 5188
[38] POSSIBLE BETA-MANNOSIDOSIS CHIMERA - ALTERED EXPRESSION OF METABOLIC PERTURBATIONS
JONES, MZ
CAVANAGH, KT
KRANICH, R
TRAVISS, C
FUJITA, Y
OHTA, M
MATSUURA, F
JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (06) : 1012 - 1023
[39] ALTERNATIVE SUBSTRATES FOR USE IN THE DETECTION OF GOATS HETEROZYGOUS FOR BETA-MANNOSIDOSIS
HEALY, PJ
MCCLEARY, BV
RESEARCH IN VETERINARY SCIENCE, 1982, 33 (01) : 73 - 75
[40] BOVINE BETA-MANNOSIDOSIS - PATHOLOGICAL AND GENETIC FINDINGS IN SALERS CALVES
BRYAN, L
SCHMUTZ, S
HODGES, SD
SNYDER, FF
VETERINARY PATHOLOGY, 1993, 30 (02) : 130 - 139

← 1 2 3 4 5 →