1ST-TRIMESTER PRENATAL-DIAGNOSIS OF SANFILIPPO C-DISEASE

被引：4

作者：

DINATALE, P ^{[1
]}

PANNONE, N ^{[1
]}

DARGENIO, G ^{[1
]}

GATTI, R ^{[1
]}

RICCI, R ^{[1
]}

LOMBARDO, C ^{[1
]}

机构：

[1] IST GIANNINA GASLINI,DEPT PEDIAT 3,I-16148 GENOA,ITALY

来源：

PRENATAL DIAGNOSIS | 1987年 / 7卷 / 08期

关键词：

D O I：

10.1002/pd.1970070811

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

收藏

页码：603 / 605

页数：3

相关论文

共 6 条

[1] THE DIAGNOSIS OF THE SANFILIPPO-C SYNDROME, USING MONOSACCHARIDE AND OLIGOSACCHARIDE SUBSTRATES TO ASSAY ACETYL-COA - 2-AMINO-2-DEOXY-ALPHA-GLUCOSIDE N-ACETYLTRANSFERASE ACTIVITY
HOPWOOD, JJ
ELLIOTT, H
[J]. CLINICA CHIMICA ACTA, 1981, 112 (01) : 67 - 75
[2] SANFILIPPO SYNDROME TYPE-C - DEFICIENCY OF ACETYL-COA - ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE IN SKIN FIBROBLASTS
KLEIN, U
KRESSE, H
VONFIGURA, K
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (10) : 5185 - 5189
[3] H-3-LABELED TRISACCHARIDE FROM HEPARIN AS SUBSTRATE FOR ACETYL-COA - 2-AMINO-2-DEOXY-ALPHA-D-GLUCOSIDE N-ACETYLTRANSFERASE
KLEIN, U
VONFIGURA, K
[J]. CARBOHYDRATE RESEARCH, 1980, 78 (02) : 249 - 256
[4] MCKUSICK VA, 1983, METABOLIC BASIS INHE, P751
[5] SANFILIPPO TYPE-C DIAGNOSIS - ASSAY OF ACETYL-COA - ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE USING [GLUCOSAMINE-C-14 AS SUBSTRATE AND LEUKOCYTES AS ENZYME SOURCE
PALLINI, R
LEDER, IG
DINATALE, P
[J]. PEDIATRIC RESEARCH, 1984, 18 (06) : 543 - 545
[6] PANNONE N, 1984, PRENAT DIAGN, V6, P207