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3-METHYLGLUTACONIC ACIDURIA - A PHENOTYPE IN WHICH ACTIVITY OF 3-METHYLGLUTACONYL-COENZYME-A HYDRATASE IS NORMAL

被引：26
作者：
GIBSON, KM
NYHAN, WL
SWEETMAN, L
NARISAWA, K
LEHNERT, W
DIVRY, P
ROBINSON, BH
ROTH, KS
BEEMER, FA
VANSPRANG, FJ
DURAN, M
WADMAN, SK
CARTIGNY, B
机构：
[1] HOP DEBROUSSE,SERV BIOCHIM,F-69322 LYON 1,FRANCE
[2] UNIV UTRECHT,CHILDRENS HOSP,HET WILHELMINA KINDERZIEKENHUIS,3512 LK UTRECHT,NETHERLANDS
[3] UNIV FREIBURG,KINDERKLIN,D-7800 FREIBURG,FED REP GER
[4] HOSP SICK CHILDREN,TORONTO M5G 1X8,ONTARIO,CANADA
[5] VIRGINIA COMMONWEALTH UNIV,MED COLL VIRGINIA,CHILDRENS MED CTR,DEPT PEDIAT,RICHMOND,VA 23298
[6] CHR LILLE,SERV PEDIAT,F-59037 LILLE,FRANCE
来源：
EUROPEAN JOURNAL OF PEDIATRICS | 1988年 / 148卷 / 01期
关键词：
D O I：
10.1007/BF00441821
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：76 / 82
页数：7
相关论文
共 17 条
  • [1] 3-METHYLGLUTACONIC ACIDURIA - FAMILIAL NEONATAL FORM WITH FATAL ONSET
    DIVRY, P
    VIANEYLIAUD, C
    MORY, O
    RAVUSSIN, JJ
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 : 286 - 289
  • [2] 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
  • [3] EDMOND J, 1974, J BIOL CHEM, V249, P66
  • [4] 3-METHYLGLUTACONYL-COA HYDRATASE DEFICIENCY - 2 DIFFERENT CLINICAL AND ENZYMATIC PHENOTYPES IN 3-METHYLGLUTACONIC ACIDURIA
    GIBSON, KM
    SWEETMAN, L
    NYHAN, WL
    NARISAWA, K
    ROTH, K
    LEHNERT, W
    ROBINSON, B
    DURAN, M
    WADMAN, SK
    [J]. PEDIATRIC RESEARCH, 1985, 19 (04) : A248 - A248
  • [5] 3-Hydroxy-3-Methylglutaric Aciduria
    Greene, Carol L.
    Cann, Howard M.
    Robinson, Brian H.
    Gibson, Kenneth M.
    Sweetman, Lawrence
    Holm, Jan
    Nyhan, William L.
    [J]. JOURNAL OF NEUROGENETICS, 1984, 1 (02) : 165 - 173
  • [6] 3-METHYLGLUTACONIC ACIDURIA - REPORT ON A SIBSHIP WITH INFANTILE PROGRESSIVE ENCEPHALOPATHY
    GRETER, J
    HAGBERG, B
    STEEN, G
    SODERHJELM, U
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1978, 129 (04) : 231 - 238
  • [7] EPISODES OF SEVERE METABOLIC-ACIDOSIS IN A PATIENT WITH 3-METHYLGLUTACONIC ACIDURIA
    HAAN, EA
    SCHOLEM, RD
    PITT, JJ
    WRAITH, JE
    BROWN, GK
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1987, 146 (05) : 484 - 488
  • [8] 3-METHYLGLUTACONIC ACIDURIA IN 2 INFANTS
    HAGBERG, B
    HJALMARSON, O
    LINDSTEDT, S
    RANSNAS, L
    STEEN, G
    [J]. CLINICA CHIMICA ACTA, 1983, 134 (1-2) : 59 - 67
  • [9] HAMMOND J, 1984, J INHERIT METAB DIS, V7, P117
  • [10] INCREASED URINARY-EXCRETION OF 3-HYDROXYISOVALERIC ACID IN PATIENTS WITH KETOACIDOSIS
    LANDAAS, S
    [J]. CLINICA CHIMICA ACTA, 1974, 54 (01) : 39 - 46
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