GALACTOSE INCREASE IN AN INFANT WHOSE MOTHER IS HETEROZYGOUS FOR PERIPHERAL URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY

被引：0
|
作者：
KELLER, KM [1 ]
WIRTH, S [1 ]
SEWELL, AC [1 ]
SHIN, YS [1 ]
机构：
[1] UNIV MUNICH,DEPT PAEDIAT,W-8000 MUNICH 2,GERMANY
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1991年 / 14卷 / 01期
关键词：
D O I：
10.1007/BF01804403
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：114 / 115
页数：2
相关论文
共 50 条
  • [1] GALACTOSEMIA CAUSED BY GENERALIZED URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY
    GARIBALDI, LR
    CANINI, S
    SUPERTIFURGA, A
    LAMEDICA, G
    FILOCAMO, M
    MARCHESE, N
    BORRONE, C
    JOURNAL OF PEDIATRICS, 1983, 103 (06): : 927 - 930
  • [2] GALACTOSEMIA CAUSED BY GENERALIZED URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY
    GARIBALDI, L
    SUPERTIFURGA, A
    BORRONE, C
    JOURNAL OF PEDIATRICS, 1986, 109 (06): : 1074 - 1075
  • [3] PRENATAL DETERMINATION OF URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE ACTIVITY
    GILLETT, MG
    HOLTON, JB
    MACFAUL, R
    PRENATAL DIAGNOSIS, 1983, 3 (01) : 57 - 59
  • [4] Generalised uridine diphosphate galactose-4-epimerase deficiency
    Walter, JH
    Roberts, REP
    Besley, GTN
    Wraith, JE
    Cleary, MA
    Holton, JB
    MacFaul, R
    ARCHIVES OF DISEASE IN CHILDHOOD, 1999, 80 (04) : 374 - 376
  • [5] URIDINE-DIPHOSPHATE GALACTOSE 4-EPIMERASE DEFICIENCY
    OYANAGI, K
    NAKATA, F
    HIRANO, S
    SOGAWA, H
    TAKAYANAGI, N
    MINAMI, R
    TSUGAWA, S
    NAKAO, T
    ICHIHARA, N
    EUROPEAN JOURNAL OF PEDIATRICS, 1981, 135 (03) : 303 - 304
  • [6] GALACTOSEMIA - A NEW SEVERE VARIANT DUE TO URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY
    HOLTON, JB
    GILLETT, MG
    MACFAUL, R
    YOUNG, R
    ARCHIVES OF DISEASE IN CHILDHOOD, 1981, 56 (11) : 885 - 887
  • [7] URIDINE-DIPHOSPHATE GALACTOSE 4-EPIMERASE DEFICIENCY
    ICHIBA, Y
    NAMBA, N
    MISUMI, H
    AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1980, 134 (10): : 995 - 995
  • [8] A CASE OF URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY DETECTED BY NEONATAL SCREENING FOR GALACTOSEMIA
    BOWLING, FG
    FRASER, DKB
    CLAGUE, AE
    HAYES, A
    MORRIS, DJ
    MEDICAL JOURNAL OF AUSTRALIA, 1986, 144 (03) : 150 - 151
  • [9] FURTHER OBSERVATIONS IN A CASE OF URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY WITH A SEVERE CLINICAL PRESENTATION
    HENDERSON, MJ
    HOLTON, JB
    MACFAUL, R
    JOURNAL OF INHERITED METABOLIC DISEASE, 1983, 6 (01) : 17 - 20
  • [10] INDUCED REOXIDATION AND REACTIVATION OF A REDUCED URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE COMPLEX
    WEE, TG
    FREY, PA
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1974, 249 (03) : 856 - 858
12345