A MUTATION OF PYRUVATE-CARBOXYLASE IN FIBROBLASTS FROM A PATIENT WITH SEVERE, CHRONIC LACTIC ACIDEMIA

被引：3

作者：

HANSEN, TL

CHRISTENSEN, E

WILLEMS, JL

TRIJBELS, JMF

机构：

[1] UNIV COPENHAGEN,RIGSHOSP,DEPT OBSTET & GYNAECOL Y,DK-2100 COPENHAGEN O,DENMARK

[2] CATHOLIC UNIV NIJMEGEN,RADBOUD HOSP,DEPT PEDIAT,NIJMEGEN,NETHERLANDS

来源：

CLINICA CHIMICA ACTA | 1983年 / 131卷 / 1-2期

关键词：

D O I：

10.1016/0009-8981(83)90350-9

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：39 / 44

页数：6

共 11 条

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CHRISTENSEN, E ;

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[5] DETERMINATION OF PYRUVATE-DEHYDROGENASE IN CULTURED HUMAN-FIBROBLASTS AND AMNIOTIC-FLUID CELLS [J].

HANSEN, TL .

CLINICA CHIMICA ACTA, 1982, 123 (1-2) :45-50

[6]

HANSEN TL, 1979, J INHERIT METAB DIS, V2, P23

[7] PRENATAL-DIAGNOSIS OF PYRUVATE-CARBOXYLASE DEFICIENCY [J].

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BERGER, R .

CLINICA CHIMICA ACTA, 1982, 119 (1-2) :121-127

[8] PURIFICATION AND PROPERTIES OF HUMAN LIVER PYRUVATE-CARBOXYLASE [J].

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[9]

Segel LH, 1975, ENZYME KINETICS

[10]

UTTER MF, 1975, ADV ENZYMOL RAMB, V42, P1

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