3-HYDROXY-3-METHYLGLUTARYL-COA LYASE IN HUMAN-SKIN FIBROBLASTS - STUDY OF ITS PROPERTIES AND DEFICIENT ACTIVITY IN 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA PATIENTS USING A SIMPLE SPECTROPHOTOMETRIC METHOD

被引:36
作者
WANDERS, RJA
SCHUTGENS, RBH
ZOETERS, PHM
机构
关键词
D O I
10.1016/0009-8981(88)90294-X
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:95 / 102
页数:8
相关论文
共 23 条
[1]  
CHALMERS RA, 1982, ANAL CHEM BIOCH DIAG, P271
[2]  
CLINKENBEARD KD, 1975, J BIOL CHEM, V250, P3108
[3]   3-HYDROXY-3-METHYLGLUTARIC ACIDURIA COMBINED WITH 3-METHYLGLUTACONIC ACIDURIA - A NEW CASE [J].
DIVRY, P ;
ROLLAND, MO ;
TEYSSIER, J ;
COTTE, J ;
FERNANDES, MCF ;
DEALMEIDA, IT ;
DASILVEIRA, C .
JOURNAL OF INHERITED METABOLIC DISEASE, 1981, 4 (03) :173-174
[4]   3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE DEFICIENCY - POSTNATAL MANAGEMENT FOLLOWING PRENATAL DIAGNOSIS BY ANALYSIS OF MATERNAL URINE [J].
DURAN, M ;
SCHUTGENS, RBH ;
KETEL, A ;
HEYMANS, H ;
BERNTSSEN, MWJ ;
KETTING, D ;
WADMAN, SK .
JOURNAL OF PEDIATRICS, 1979, 95 (06) :1004-1007
[5]   3-HYDROXY-3-METHYLGLUTARIC ACIDURIA - A NEW ASSAY OF 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE USING HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY [J].
GIBSON, KM ;
SWEETMAN, L ;
NYHAN, WL ;
PAGE, TM ;
GREENE, C ;
CANN, HM .
CLINICA CHIMICA ACTA, 1982, 126 (02) :171-181
[6]  
GIBSON KM, 1983, CLIN CHIM ACTA, V130, P397
[7]  
HAMMOND J, 1984, J INHERIT METAB DIS, V7, P117
[8]  
LEONARD JV, 1979, LANCET, V1, P680
[9]  
LEOPOLD D, 1982, EUR J PEDIATR, V138, P73
[10]  
LOWRY OH, 1951, J BIOL CHEM, V193, P265