THE 1ST PRENATAL-DIAGNOSIS OF DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY

被引：3

作者：

JAKOBS, C

STELLAARD, F

SMIT, LME

VANVUGT, JMG

DURAN, M

BERGER, R

ROVERS, P

机构：

[1] FREE UNIV AMSTERDAM HOSP,DEPT OBSTET & GYNAECOL,AMSTERDAM,NETHERLANDS

[2] STATE UNIV UTRECHT,CHILDRENS HOSP,HET WILHELMINA KINDERZIEKENHUIS,UTRECHT,NETHERLANDS

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1991年 / 150卷 / 04期

关键词：

D O I：

10.1007/BF01955535

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：291 / 291

页数：1

共 5 条

[1] ELEVATED URINE, BLOOD AND CEREBROSPINAL-FLUID LEVELS OF URACIL AND THYMINE IN A CHILD WITH DIHYDROTHYMINE DEHYDROGENASE-DEFICIENCY [J].

BAKKEREN, JAJM ;

DEABREU, RA ;

SENGERS, RCA ;

GABREELS, FJM ;

MAAS, JM ;

RENIER, WO .

CLINICA CHIMICA ACTA, 1984, 140 (03) :247-256

[2] DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY LEADING TO THYMINE-URACILURIA - AN INBORN ERROR OF PYRIMIDINE METABOLISM [J].

BERGER, R ;

STOKERDEVRIES, SA ;

WADMAN, SK ;

DURAN, M ;

BEEMER, FA ;

DEBREE, PK ;

WEITSBINNERTS, JJ ;

PENDERS, TJ ;

VANDERWOUDE, JK .

CLINICA CHIMICA ACTA, 1984, 141 (2-3) :227-234

[3] A NEW CASE OF DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY [J].

BROCKSTEDT, M ;

JAKOBS, C ;

SMIT, LME ;

VANGENNIP, AH ;

BERGER, R .

JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (01) :121-124

[4] STABLE ISOTOPE-DILUTION ANALYSIS OF OROTIC-ACID AND URACIL IN AMNIOTIC-FLUID [J].

JAKOBS, C ;

SWEETMAN, L ;

NYHAN, WL ;

GRUENKE, L ;

CRAIG, JC ;

WADMAN, SK .

CLINICA CHIMICA ACTA, 1984, 143 (02) :123-133

[5] PRENATAL-DIAGNOSIS OF INHERITED METABOLIC DISORDERS BY QUANTITATION OF CHARACTERISTIC METABOLITES IN AMNIOTIC-FLUID - FACTS AND FUTURE [J].

JAKOBS, C ;

TENBRINK, HJ ;

STELLAARD, F .

PRENATAL DIAGNOSIS, 1990, 10 (04) :265-271

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