GALACTOSEMIA CAUSED BY GENERALIZED URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY

被引：16

作者：

GARIBALDI, LR

CANINI, S

SUPERTIFURGA, A

LAMEDICA, G

FILOCAMO, M

MARCHESE, N

BORRONE, C

机构：

[1] IST GIANNINA GASLINI, DEPT PEDIAT 3, I-16148 GENOA, ITALY

[2] IST GIANNINA GASLINI, CLIN CHEM LAB, I-16148 GENOA, ITALY

来源：

JOURNAL OF PEDIATRICS | 1983年 / 103卷 / 06期

关键词：

D O I：

10.1016/S0022-3476(83)80719-7

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：927 / 930

页数：4

共 19 条

[1] GAS-LIQUID-CHROMATOGRAPHIC DETERMINATION OF GALACTITOL IN AMNIOTIC-FLUID FOR POSSIBLE USE IN PRENATAL-DIAGNOSIS OF GALACTOSEMIA [J].

ALLEN, JT ;

HOLTON, JB ;

GILLETT, MG .

CLINICA CHIMICA ACTA, 1981, 110 (01) :59-63

[2]

BEUTLER E, 1966, J LAB CLIN MED, V68, P137

[3]

BEUTLER E, 1966, CLIN CHIM ACTA, V13, P396

[4]

GILZELMANN R, 1980, NEONATAL SCREENING I, P67

[5]

GITZELMANN R, 1972, HELV PAEDIATR ACTA, V27, P125

[6]

GITZELMANN R, 1973, HELV PAEDIATR ACTA, V28, P497

[7]

GITZELMANN R, 1976, HELV PAEDIATR ACTA, V31, P44

[8] FURTHER OBSERVATIONS IN A CASE OF URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY WITH A SEVERE CLINICAL PRESENTATION [J].

HENDERSON, MJ ;

HOLTON, JB ;

MACFAUL, R .

JOURNAL OF INHERITED METABOLIC DISEASE, 1983, 6 (01) :17-20

[9] GALACTOSEMIA - A NEW SEVERE VARIANT DUE TO URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY [J].

HOLTON, JB ;

GILLETT, MG ;

MACFAUL, R ;

YOUNG, R .

ARCHIVES OF DISEASE IN CHILDHOOD, 1981, 56 (11) :885-887

[10]

KALCKAR HM, 1965, SCIENCE, V350, P305

← 1 2 →