CLINICAL AND BIOCHEMICAL VARIATION AND FAMILY STUDIES IN THE MULTIPLE ACYL-COA DEHYDROGENATION DISORDERS

被引:36
作者
RHEAD, WJ
WOLFF, JA
LIPSON, M
FALACE, P
DESAI, N
FRITCHMAN, K
MOON, A
SWEETMAN, L
机构
[1] UNIV CALIF SAN DIEGO,DEPT PEDIAT,LA JOLLA,CA 92093
[2] UNIV IOWA,DEPT PEDIAT,IOWA CITY,IA 52242
[3] UNIV KENTUCKY,DEPT PEDIAT,LEXINGTON,KY 40536
[4] UNIV KENTUCKY,DEPT PATHOL,LEXINGTON,KY 40536
[5] PERMANENTE MED GRP,DEPT PEDIAT,SACRAMENTO,CA
关键词
D O I
10.1203/00006450-198704000-00010
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:371 / 376
页数:6
相关论文
共 24 条
[1]   THE MULTIPLE ACYL-COENZYME A DEHYDROGENATION DISORDERS, GLUTARIC ACIDURIA TYPE-II AND ETHYLMALONIC-ADIPIC ACIDURIA - MITOCHONDRIAL FATTY-ACID OXIDATION, ACYL-COENZYME-A DEHYDROGENASE, AND ELECTRON-TRANSFER FLAVOPROTEIN ACTIVITIES IN FIBROBLASTS [J].
AMENDT, BA ;
RHEAD, WJ .
JOURNAL OF CLINICAL INVESTIGATION, 1986, 78 (01) :205-213
[2]   CATALYTIC DEFECT OF MEDIUM-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY - LACK OF BOTH COFACTOR RESPONSIVENESS AND BIOCHEMICAL HETEROGENEITY IN 8 PATIENTS [J].
AMENDT, BA ;
RHEAD, WJ .
JOURNAL OF CLINICAL INVESTIGATION, 1985, 76 (03) :963-969
[3]   FLUOROMETRIC ASSAY OF PROTEINS IN NANOGRAM RANGE [J].
BOHLEN, P ;
STEIN, S ;
DAIRMAN, W ;
UDENFRIEND, S .
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1973, 155 (01) :213-220
[4]  
COUDE FX, 1981, HUM GENET, V59, P263
[5]   THE URINARY-EXCRETION OF ETHYLMALONIC ACID - WHAT LEVEL REQUIRES FURTHER ATTENTION [J].
DURAN, M ;
WALTHER, FJ ;
BRUINVIS, L ;
WADMAN, SK .
BIOCHEMICAL MEDICINE, 1983, 29 (02) :171-175
[6]   RECURRENT HYPOGLYCEMIA ASSOCIATED WITH GLUTARIC ACIDURIA TYPE-II IN AN ADULT [J].
DUSHEIKO, G ;
KEW, MC ;
JOFFE, BI ;
LEWIN, JR ;
MANTAGOS, S ;
TANAKA, K .
NEW ENGLAND JOURNAL OF MEDICINE, 1979, 301 (26) :1405-1409
[7]   DEFICIENCY OF ELECTRON-TRANSFER FLAVOPROTEIN OR ELECTRON-TRANSFER FLAVOPROTEIN - UBIQUINONE OXIDOREDUCTASE IN GLUTARIC ACIDEMIA TYPE-II FIBROBLASTS [J].
FRERMAN, FE ;
GOODMAN, SI .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (13) :4517-4520
[8]   GLUTARIC ACIDEMIA TYPE-II (MULTIPLE ACYL-COA DEHYDROGENATION DEFICIENCY) [J].
GOODMAN, SI ;
FRERMAN, FE .
JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 :33-37
[9]   GLUTARIC ACIDEMIA TYPE-II - CLINICAL, BIOCHEMICAL, AND MORPHOLOGIC CONSIDERATIONS [J].
GOODMAN, SI ;
STENE, DO ;
MCCABE, ERB ;
NORENBERG, MD ;
SHIKES, RH ;
STUMPF, DA ;
BLACKBURN, GK .
JOURNAL OF PEDIATRICS, 1982, 100 (06) :946-950
[10]   MULTIPLE ACYL-COA DEHYDROGENASE-DEFICIENCY (GLUTARIC ACIDURIA TYPE-II) WITH TRANSIENT HYPERSARCOSINEMIA AND SARCOSINURIA - POSSIBLE INHERITED DEFICIENCY OF AN ELECTRON-TRANSFER FLAVOPROTEIN [J].
GOODMAN, SI ;
MCCABE, ERB ;
FENNESSEY, PV ;
MACE, JW .
PEDIATRIC RESEARCH, 1980, 14 (01) :12-17