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
    BEEMER, FA
    BARTLETT, K
    DURAN, M
    GHNEIM, HK
    WADMAN, SK
    BRUINVIS, L
    KETTING, D
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1982, 138 (04) : 351 - 354
  • [2] SELECTIVE ION MONITORING IN CLINICAL-CHEMISTRY
    BJORKHEM, I
    [J]. 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
    BURRI, BJ
    SWEETMAN, L
    NYHAN, WL
    [J]. 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
    DURAN, M
    KETTING, D
    WADMAN, SK
    JAKOBS, C
    SCHUTGENS, RBH
    VEDER, HA
    [J]. CLINICA CHIMICA ACTA, 1978, 90 (02) : 187 - 193
  • [7] INHERITED 3-METHYLGLUTACONIC ACIDURIA IN 2 BROTHERS - ANOTHER DEFECT OF LEUCINE METABOLISM
    DURAN, M
    BEEMER, FA
    TIBOSCH, AS
    BRUINVIS, L
    KETTING, D
    WADMAN, SK
    [J]. 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
    KRAPCHO, AP
    JAHNGEN, EGE
    [J]. JOURNAL OF ORGANIC CHEMISTRY, 1974, 39 (09) : 1322 - 1324
  • [10] THE NEONATAL FORM OF BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY
    PACKMAN, S
    SWEETMAN, L
    BAKER, H
    WALL, S
    [J]. JOURNAL OF PEDIATRICS, 1981, 99 (03) : 418 - 420