PYRUVATE-CARBOXYLASE ACTIVITY IN CHORIONIC VILLI - POSSIBILITY OF APPLICATION TO PRENATAL-DIAGNOSIS

被引：2

作者：

BARASH, V

KHASSIS, S

GRANAT, M

GUTMAN, A

机构：

[1] HADASSAH UNIV HOSP,DEPT CLIN BIOCHEM,IL-91120 JERUSALEM,ISRAEL

[2] HADASSAH UNIV HOSP,DEPT GYNECOL,IL-91120 JERUSALEM,ISRAEL

来源：

ENZYME | 1988年 / 39卷 / 01期

关键词：

D O I：

10.1159/000469094

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：54 / 59

页数：6

共 22 条

[1] DETECTION OF PYRUVATE-CARBOXYLASE DEFICIENCY IN LEUKOCYTES AND FIBROBLASTS [J].

ATKIN, BM ;

UTTER, MF ;

WEINBERG, MB ;

BUIST, NRM .

PEDIATRIC RESEARCH, 1977, 11 (04) :452-452

[2] IMMUNOCHEMICAL STUDIES WITH SOLUBLE AND MITOCHRONDRIAL PYRUVATE CARBOXYLASE ACTIVITIES FROM RAT TISSUES [J].

BALLARD, FJ ;

HANSON, RW ;

RESHEF, L .

BIOCHEMICAL JOURNAL, 1970, 119 (04) :735-&

[3] PHOSPHOENOLPYRUVATE CARBOXYKINASE AND PYRUVATE CARBOXYLASE IN DEVELOPING RAT LIVER [J].

BALLARD, FJ ;

HANSON, RW .

BIOCHEMICAL JOURNAL, 1967, 104 (03) :866-&

[4] CLINICAL AND BIOCHEMICAL IMPLICATIONS OF PYRUVATE-CARBOXYLASE DEFICIENCY [J].

DEVIVO, DC ;

HAYMOND, MW ;

LECKIE, MP ;

BUSSMANN, YL ;

MCDOUGAL, DB ;

PAGLIARA, AS .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1977, 45 (06) :1281-1296

[5]

FELDMAN GL, 1979, PEDIAT RES, V14, P253

[6] PYRUVATE-CARBOXYLASE DEFICIENCY WITH UREA CYCLE IMPAIRMENT [J].

GRETER, J ;

GUSTAFSSON, J ;

HOLME, E .

ACTA PAEDIATRICA SCANDINAVICA, 1985, 74 (06) :982-986

[7] A MUTATION OF PYRUVATE-CARBOXYLASE IN FIBROBLASTS FROM A PATIENT WITH SEVERE, CHRONIC LACTIC ACIDEMIA [J].

HANSEN, TL ;

CHRISTENSEN, E ;

WILLEMS, JL ;

TRIJBELS, JMF .

CLINICA CHIMICA ACTA, 1983, 131 (1-2) :39-44

[8]

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

[9] CHORION BIOPSY IN EARLY-PREGNANCY - A METHOD OF EARLY PRENATAL-DIAGNOSIS FOR INHERITED DISORDERS [J].

KAZY, Z ;

ROZOVSKY, IS ;

BAKHAREV, VA .

PRENATAL DIAGNOSIS, 1982, 2 (01) :39-45

[10] PRENATAL-DIAGNOSIS OF HEREDITARY TYROSINEMIA TYPE-I BY DETERMINATION OF FUMARYLACETOACETASE IN CHORIONIC VILLUS MATERIAL [J].

KVITTINGEN, EA ;

GUIBAUD, PP ;

DIVRY, P ;

MANDON, G ;

ROLLAND, MO ;

DOMENICHINI, Y ;

JAKOBS, C ;

CHRISTENSEN, E .

EUROPEAN JOURNAL OF PEDIATRICS, 1986, 144 (06) :597-598

← 1 2 3 →