RAPID METHOD FOR ASSAY OF BRANCHED-CHAIN KETO ACID DECARBOXYLATION IN CULTURED-CELLS AND ITS APPLICATION TO PRENATAL DIAGNOSIS OF MAPLE SYRUP URINE DISEASE

被引：11

作者：

FENSOM, AH ^{[1
]}

BENSON, PF ^{[1
]}

BAKER, JE ^{[1
]}

机构：

[1] GUYS HOSP,PRINCE PHILIP RES LABS,PAEDIAT RES UNIT,LONDON SE1 9RT,ENGLAND

来源：

关键词：

D O I：

10.1016/0009-8981(78)90072-4

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

页码：169 / 174

页数：6

共 9 条

[1] CANTZ M, 1972, METHOD ENZYMOL, V28, P884
[2] ENZYME-ACTIVITY IN CLASSICAL AND VARIANT FORMS OF MAPLE SYRUP URINE DISEASE
DANCIS, J
COX, RP
SNYDERMAN, SE
HUTZLER, J
[J]. JOURNAL OF PEDIATRICS, 1972, 81 (02) : 312 - +
[3] ENZYME DEFECT IN SKIN FIBROBLASTS IN INTERMITTENT BRANCHED-CHAIN KETONURIA AND IN MAPLE SYRUP URINE DISEASE
DANCIS, J
HUTZLER, J
COX, RP
[J]. BIOCHEMICAL MEDICINE, 1969, 2 (05): : 407 - &
[4] DANCIS J, 1977, AM J HUM GENET, V29, P272
[5] DANCIS J, 1973, TISSUE CULTURE METHO, P639
[6] LOWRY OH, 1951, J BIOL CHEM, V193, P265
[7] RAPID DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETOACIDURIA) BY MICROENZYME ASSAY IN LEUKOCYTES AND FIBROBLASTS
WENDEL, U
WOHLER, W
GOEDDE, HW
LANGENBECK, U
PASSARGE, E
RUDIGER, HW
[J]. CLINICA CHIMICA ACTA, 1973, 45 (04) : 433 - 440
[8] MAPLE SYRUP URINE DISEASE - RAPID PRENATAL DIAGNOSIS BY ENZYME ASSAY
WENDEL, U
RUDIGER, HW
PASSARGE, E
MIKKELSEN, M
[J]. HUMANGENETIK, 1973, 19 (01): : 127 - 128
[9] MAPLE SYRUP URINE DISEASE - ANALYSIS OF BRANCHED-CHAIN KETOACID DECARBOXYLATION IN CULTURED FIBROBLASTS
WENDEL, U
WENTRUP, H
RUDIGER, HW
[J]. PEDIATRIC RESEARCH, 1975, 9 (09) : 709 - 717