THE PRENATAL-DIAGNOSIS OF GLUTARIC ACIDURIA TYPE-II, USING QUANTITATIVE GC-MS

被引：8

作者：

CHALMERS, RA

TRACEY, BM

KING, GS

PETTIT, B

ROCCHICCIOLI, F

SAUDUBRAY, JM

GRAY, RGF

BOUE, J

KEELING, JW

LINDENBAUM, RH

机构：

[1] QUEEN CHARLOTTES MATERN HOSP,LONDON W6 0XG,ENGLAND

[2] HOP NECKER,DEPT PEDIAT,F-75730 PARIS 15,FRANCE

[3] UNIV SHEFFIELD,SUBDEPT MED GENET,SHEFFIELD S10 2TN,S YORKSHIRE,ENGLAND

[4] JOHN RADCLIFFE HOSP,OXFORD OX3 9DU,ENGLAND

[5] CHURCHILL HOSP,OXFORD OX3 7LJ,ENGLAND

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1985年 / 8卷

关键词：

D O I：

10.1007/BF01811501

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：145 / 146

页数：2

共 4 条

[1] GLUTARIC ACIDURIA TYPE-II - BIOCHEMICAL INVESTIGATION AND TREATMENT OF A CHILD DIAGNOSED PRENATALLY [J].

BENNETT, MJ ;

CURNOCK, DA ;

ENGEL, PC ;

SHAW, L ;

GRAY, RGF ;

HULL, D ;

PATRICK, AD ;

POLLITT, RJ .

JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (02) :57-61

[2]

BOUE J, 1984, LANCET, V1, P846

[3] PRENATAL-DIAGNOSIS OF GLUTARIC ACIDURIA TYPE-II BY DIRECT CHEMICAL-ANALYSIS OF DICARBOXYLIC-ACIDS IN AMNIOTIC-FLUID [J].

JAKOBS, C ;

SWEETMAN, L ;

WADMAN, SK ;

DURAN, M ;

SAUDUBRAY, JM ;

NYHAN, WL .

EUROPEAN JOURNAL OF PEDIATRICS, 1984, 141 (03) :153-157

[4]

MITCHELL G, 1983, LANCET, V1, P1099

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