STABLE ISOTOPE-DILUTION ANALYSIS OF 3-HYDROXYISOVALERIC ACID IN AMNIOTIC-FLUID - CONTRIBUTION TO THE PRENATAL-DIAGNOSIS OF INHERITED DISORDERS OF LEUCINE CATABOLISM

被引:35
作者
JAKOBS, C
SWEETMAN, L
NYHAN, WL
PACKMAN, S
机构
[1] UNIV CALIF SAN DIEGO,DEPT PEDIAT,LA JOLLA,CA 92093
[2] UNIV CALIF SAN FRANCISCO,DEPT PEDIAT,SAN FRANCISCO,CA 94143
关键词
D O I
10.1007/BF01805614
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:15 / 20
页数:6
相关论文
共 21 条
[1]   ISOLATED BIOTIN-RESISTANT 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY IN 2 SIBS [J].
BEEMER, FA ;
BARTLETT, K ;
DURAN, M ;
GHNEIM, HK ;
WADMAN, SK ;
BRUINVIS, L ;
KETTING, D .
EUROPEAN JOURNAL OF PEDIATRICS, 1982, 138 (04) :351-354
[2]   SELECTIVE ION MONITORING IN CLINICAL-CHEMISTRY [J].
BJORKHEM, I .
CRC CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES, 1979, 11 (01) :53-105
[3]  
BUCHANAN PD, 1980, CLIN GENET, V18, P177
[4]   MUTANT HOLOCARBOXYLASE SYNTHETASE - EVIDENCE FOR THE ENZYME DEFECT IN EARLY INFANTILE BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY [J].
BURRI, BJ ;
SWEETMAN, L ;
NYHAN, WL .
JOURNAL OF CLINICAL INVESTIGATION, 1981, 68 (06) :1491-1495
[5]  
CHALMERS RA, 1982, ORGANIC ACIDS MAN, P196
[6]   ORGANIC-ACID EXCRETION IN A PATIENT WITH 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY - FACTS AND ARTIFACTS [J].
DURAN, M ;
KETTING, D ;
WADMAN, SK ;
JAKOBS, C ;
SCHUTGENS, RBH ;
VEDER, HA .
CLINICA CHIMICA ACTA, 1978, 90 (02) :187-193
[7]   INHERITED 3-METHYLGLUTACONIC ACIDURIA IN 2 BROTHERS - ANOTHER DEFECT OF LEUCINE METABOLISM [J].
DURAN, M ;
BEEMER, FA ;
TIBOSCH, AS ;
BRUINVIS, L ;
KETTING, D ;
WADMAN, SK .
JOURNAL OF PEDIATRICS, 1982, 101 (04) :551-554
[8]  
GOMPERTZ D, 1971, LANCET, V2, P22
[9]   SPECIFIC INTRODUCTION OF AN ISOPROPYLIDENE GROUP IN SYNTHESIS OF MONOTERPENE TERPINOLENE AND SESQUITERPENE (+/-)-ALPHA-CURCUMENE [J].
KRAPCHO, AP ;
JAHNGEN, EGE .
JOURNAL OF ORGANIC CHEMISTRY, 1974, 39 (09) :1322-1324
[10]   THE NEONATAL FORM OF BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY [J].
PACKMAN, S ;
SWEETMAN, L ;
BAKER, H ;
WALL, S .
JOURNAL OF PEDIATRICS, 1981, 99 (03) :418-420