PYRUVATE-CARBOXYLASE DEFICIENCY

被引:16
|
作者
BARTLETT, K
GHNEIM, HK
STIRK, JH
DALE, G
ALBERTI, KGMM
机构
关键词
D O I
10.1007/BF03047379
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:74 / 78
页数:5
相关论文
共 50 条
  • [1] PATIENT WITH PYRUVATE-CARBOXYLASE DEFICIENCY
    VANBIERVLIET, JPGM
    WADMAN, SK
    MONNENS, LAH
    WILLEMS, JL
    [J]. PEDIATRIC RESEARCH, 1976, 10 (10) : 900 - 900
  • [2] PYRUVATE-CARBOXYLASE DEFICIENCY IN TWINS
    POLLOCK, MA
    CUMBERBATCH, M
    BENNETT, MJ
    GRAY, RGF
    BRAND, M
    HYLAND, K
    CONGDON, PJ
    PITTSTUCKER, T
    GRAY, S
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1986, 9 (01) : 29 - 30
  • [3] LYMPHOBLASTS AND DIAGNOSIS OF PYRUVATE-CARBOXYLASE DEFICIENCY
    TAKADA, G
    OHTAKE, M
    MIYABAYASHI, S
    TADA, K
    [J]. TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1982, 136 (01): : 103 - 107
  • [4] ANTENATAL DIAGNOSIS OF PYRUVATE-CARBOXYLASE DEFICIENCY
    MARSAC, C
    AUGEREAU, C
    BOUE, J
    VIDAILHET, M
    [J]. LANCET, 1981, 1 (8221): : 675 - 675
  • [5] PYRUVATE-CARBOXYLASE AND PHOSPHOENOLPYRUVATE CARBOXYKINASE ACTIVITY IN LEUKOCYTES AND FIBROBLASTS FROM A PATIENT WITH PYRUVATE-CARBOXYLASE DEFICIENCY
    ATKIN, BM
    UTTER, MF
    WEINBERG, MB
    [J]. PEDIATRIC RESEARCH, 1979, 13 (01) : 38 - 43
  • [6] PRENATAL-DIAGNOSIS OF PYRUVATE-CARBOXYLASE DEFICIENCY
    ROBINSON, BH
    TOONE, JR
    BENEDICT, RP
    DIMMICK, JE
    OEI, J
    APPLEGARTH, DA
    [J]. PRENATAL DIAGNOSIS, 1985, 5 (01) : 67 - 71
  • [7] PYRUVATE-CARBOXYLASE DEFICIENCY WITH UREA CYCLE IMPAIRMENT
    GRETER, J
    GUSTAFSSON, J
    HOLME, E
    [J]. ACTA PAEDIATRICA SCANDINAVICA, 1985, 74 (06): : 982 - 986
  • [8] LEIGHS NECROTIZING ENCEPHALOPATHY WITH PYRUVATE-CARBOXYLASE DEFICIENCY
    GILBERT, EF
    ARYA, S
    CHUN, R
    [J]. ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE, 1983, 107 (04) : 162 - 166
  • [9] AN ATYPICAL FRENCH FORM OF PYRUVATE-CARBOXYLASE DEFICIENCY
    PINEDA, M
    CAMPISTOL, J
    VILASECA, MA
    BRIONES, P
    RIBES, A
    TEMUDO, T
    PONS, M
    CUSI, V
    ROLLAND, MO
    [J]. BRAIN & DEVELOPMENT, 1995, 17 (04): : 276 - 279
  • [10] PRENATAL-DIAGNOSIS OF PYRUVATE-CARBOXYLASE DEFICIENCY
    MARSAC, C
    AUGEREAU, C
    FELDMAN, G
    WOLF, B
    HANSEN, TL
    BERGER, R
    [J]. CLINICA CHIMICA ACTA, 1982, 119 (1-2) : 121 - 127