INCREASE OF GTP CYCLOHYDROLASE-I ACTIVITY IN MONONUCLEAR BLOOD-CELLS BY STIMULATION - DETECTION OF HETEROZYGOTES OF GTP CYCLOHYDROLASE-I DEFICIENCY

被引:50
作者
BLAU, N [1 ]
JOLLER, P [1 ]
ATARES, M [1 ]
CARDESAGARCIA, J [1 ]
NIEDERWIESER, A [1 ]
机构
[1] UNIV EXTREMADURA,HOSP MOTHER & CHILD,BADAJOZ,SPAIN
关键词
D O I
10.1016/0009-8981(85)90299-2
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
收藏
页码:47 / 52
页数:6
相关论文
共 14 条
[1]   GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE-I ASSAY IN HUMAN AND RAT-LIVER USING HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY OF NEOPTERIN PHOSPHATES AND GUANINE-NUCLEOTIDES [J].
BLAU, N ;
NIEDERWIESER, A .
ANALYTICAL BIOCHEMISTRY, 1983, 128 (02) :446-452
[2]  
BOYUM A, 1968, SCAND J CLIN LAB INV, VS 21, P77
[3]  
BRADFORD MM, 1976, ANAL BIOCHEM, V72, P248, DOI 10.1016/0003-2697(76)90527-3
[4]  
BRADLEY LM, 1980, SELECTED METHODS CEL, P156
[5]  
Danks D M, 1978, J Inherit Metab Dis, V1, P49, DOI 10.1007/BF01801843
[6]  
HUBER C, 1983, J IMMUNOL, V130, P1047
[7]  
HUBER C, 1983, BIOCH CLIN ASPECTS P, V2, P177
[8]  
JOLLER PW, 1983, BIOCH CLIN ASPECTS P, V2, P167
[9]   PHENYLKETONURIA DUE TO A DEFICIENCY OF DIHYDROPTERIDINE REDUCTASE [J].
KAUFMAN, S ;
HOLTZMAN, NA ;
MILSTIEN, S ;
BUTLER, IJ ;
KRUMHOLZ, A .
NEW ENGLAND JOURNAL OF MEDICINE, 1975, 293 (16) :785-790
[10]   GTP CYCLOHYDROLASE-I DEFICIENCY, A NEW ENZYME DEFECT CAUSING HYPERPHENYLALANINEMIA WITH NEOPTERIN, BIOPTERIN, DOPAMINE, AND SEROTONIN DEFICIENCIES AND MUSCULAR HYPOTONIA [J].
NIEDERWIESER, A ;
BLAU, N ;
WANG, M ;
JOLLER, P ;
ATARES, M ;
CARDESAGARCIA, J .
EUROPEAN JOURNAL OF PEDIATRICS, 1984, 141 (04) :208-214