DEVELOPMENT OF A PROTOCOL FOR NEWBORN SCREENING FOR DISORDERS OF THE GALACTOSE METABOLIC PATHWAY

被引：14

作者：

BOWLING, FG ^{[1
]}

BROWN, ARD ^{[1
]}

机构：

[1] MACQUARIE HOSP,OLIVER LATHAM LAB,SYDNEY,NSW,AUSTRALIA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1986年 / 9卷 / 01期

关键词：

D O I：

10.1007/BF01813911

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：99 / 104

页数：6

共 13 条

[1]

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

[2]

BEUTLER E, 1981, AM J CLIN PATHOL, V76, P841

[3]

DONNELL GN, 1980, SSIEM S, V16, P103

[4]

Fujimoto A., 1983, NEONATAL SCREENING, P254

[5] GALACTOSEMIA CAUSED BY GENERALIZED URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY [J].

GARIBALDI, LR ;

CANINI, S ;

SUPERTIFURGA, A ;

LAMEDICA, G ;

FILOCAMO, M ;

MARCHESE, N ;

BORRONE, C .

JOURNAL OF PEDIATRICS, 1983, 103 (06) :927-930

[6] HEREDITARY GALACTOKINASE DEFICIENCY A NEWLY RECOGNIZED CAUSE OF JUVENILE CATARACTS [J].

GITZELMANN, R .

PEDIATRIC RESEARCH, 1967, 1 (01) :14-+

[7] 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

[8]

HILL GN, 1983, NEONATAL SCREENING, P252

[9]

MISUMA H, 1981, CLIN CHIM ACTA, V111, P27

[10]

MISUMI H, 1981, CLIN CHIM ACTA, V116, P101

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