NEWBORN SCREENING FOR GALACTOSEMIA AND OTHER GALACTOSE METABOLIC DEFECTS

被引：84

作者：

LEVY, HL

HAMMERSEN, G

机构：

[1] MASSACHUSETTS GEN HOSP, NEUROL SERV, JOSEPH P KENNEDY JR LABS, BOSTON, MA 02114 USA

[2] HARVARD UNIV, SCH MED, DEPT NEUROL, BOSTON, MA 02115 USA

来源：

JOURNAL OF PEDIATRICS | 1978年 / 92卷 / 06期

关键词：

D O I：

10.1016/S0022-3476(78)80351-5

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：871 / 877

页数：7

共 32 条

[1] GALACTOSEMIA - SYMPTOMATIC AND ASYMPTOMATIC HOMOZYGOTES IN 1 NEGRO SIBSHIP [J].

BAKER, L ;

MELLMAN, WJ ;

TEDESCO, TA ;

SEGAL, S .

JOURNAL OF PEDIATRICS, 1966, 68 (04) :551-+

[2]

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

[3]

BEUTLER E, 1973, J LAB CLIN MED, V82, P818

[4] IMPROVED METHOD FOR MEASURING GALACTOSE-I-PHOSPHATE URIDYL TRANSFERASE ACTIVITY OF ERYTHROCYTES [J].

BEUTLER, E ;

BALUDA, MC .

CLINICA CHIMICA ACTA, 1966, 13 (03) :369-&

[5]

BRANDON GR, 1976, PUBLIC HLTH LABORATO, V34, P56

[6] UNSTABLE GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE - NEW VARIANT OF GALACTOSEMIA [J].

CHACKO, CM ;

CHRISTIAN, JC ;

NADLER, HL .

JOURNAL OF PEDIATRICS, 1971, 78 (03) :454-+

[7]

DONNELL GN, 1969, CONGENITAL MENTAL RE, P87

[8]

DONNELL GN, 1969, HSIA DYY, P247

[9]

GITZELMANN R, 1977, HELV PAEDIATR ACTA, V31, P441

[10]

GITZELMANN R, 1976, MONATSSCHR KINDERH, V124, P654

← 1 2 3 4 →