MEVALONATE KINASE IN LYSATES OF CULTURED HUMAN-FIBROBLASTS AND LYMPHOBLASTS - KINETIC-PROPERTIES, ASSAY CONDITIONS, CARRIER DETECTION AND MEASUREMENT OF RESIDUAL ACTIVITY IN A PATIENT WITH MEVALONIC ACIDURIA

被引:25
作者
GIBSON, KM
LOHR, JL
BROOCK, RL
HOFFMANN, G
NYHAN, WL
SWEETMAN, L
BRANDT, IK
WAPPNER, RS
BADER, PI
机构
[1] PARKVIEW MEM HOSP,FORT WAYNE,IN
[2] INDIANA UNIV,DEPT PEDIAT,INDIANAPOLIS,IN 46204
[3] INDIANA UNIV,DEPT MED GENET,INDIANAPOLIS,IN 46204
[4] JAMES WHITCOMB RILEY HOSP CHILDREN,INDIANAPOLIS,IN 46202
关键词
D O I
10.1159/000469050
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
收藏
页码:47 / 55
页数:9
相关论文
共 16 条
[1]   MEVALONIC ACIDURIA - AN INBORN ERROR OF CHOLESTEROL-BIOSYNTHESIS [J].
BERGER, R ;
SMIT, GPA ;
SCHIERBEEK, H ;
BIJSTERVELD, K ;
LECOULTRE, R .
CLINICA CHIMICA ACTA, 1985, 152 (1-2) :219-222
[2]  
BEYTIA E, 1970, J BIOL CHEM, V245, P5450
[3]   THE ANALYSIS OF ACYL-COENZYME A DERIVATIVES BY REVERSE-PHASE HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY [J].
DEBUYSERE, MS ;
OLSON, MS .
ANALYTICAL BIOCHEMISTRY, 1983, 133 (02) :373-379
[4]  
GARCIAMARTINEZ J, 1982, REV ESP FISIOL, V38, P393
[5]  
GARCIAMARTINEZ J, 1982, REV ESP FISIOL, V38, P261
[6]  
HARWOOD HJ, 1982, J LIPID RES, V23, P754
[7]   MEVALONIC ACIDURIA - AN INBORN ERROR OF CHOLESTEROL AND NONSTEROL ISOPRENE BIOSYNTHESIS [J].
HOFFMAN, G ;
GIBSON, KM ;
BRANDT, IK ;
BADER, PI ;
WAPPNER, RS ;
SWEETMAN, L .
NEW ENGLAND JOURNAL OF MEDICINE, 1986, 314 (25) :1610-1614
[8]   AN IMPROVED PURIFICATION PROCEDURE, AN ALTERNATIVE ASSAY AND ACTIVATION OF MEVALONATE KINASE BY ATP [J].
LEE, CS ;
OSULLIVAN, WJ .
BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 747 (03) :215-224
[9]   PHOSPHOROTHIOATE ANALOGS OF ADENOSINE-TRIPHOSPHATE AS SUBSTRATES OF THE MEVALONATE KINASE REACTION [J].
LEE, CS ;
OSULLIVAN, WJ .
BIOCHIMICA ET BIOPHYSICA ACTA, 1984, 787 (02) :131-137
[10]  
LOWRY OH, 1951, J BIOL CHEM, V193, P265