CATALYTIC DEFECT OF MEDIUM-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY - LACK OF BOTH COFACTOR RESPONSIVENESS AND BIOCHEMICAL HETEROGENEITY IN 8 PATIENTS

被引：23
作者：
AMENDT, BA
RHEAD, WJ
机构：
来源：
JOURNAL OF CLINICAL INVESTIGATION | 1985年 / 76卷 / 03期
关键词：
D O I：
10.1172/JCI112096
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：963 / 969
页数：7
相关论文
共 37 条
[1]   PURIFICATION AND CHARACTERIZATION OF A LONG-CHAIN ACYL-COA HYDROLASE FROM RAT-LIVER MICROSOMES [J].
BERGE, RK .
BIOCHIMICA ET BIOPHYSICA ACTA, 1979, 574 (02) :321-333
[2]   ALIPHATIC C6-C14 DICARBOXYLIC-ACIDS IN URINE FROM AN INFANT WITH FATAL CONGENITAL LACTIC ACIDOSIS [J].
BORG, L ;
STEEN, G ;
LINDSTEDT, S ;
HJALMARSON, O .
CLINICA CHIMICA ACTA, 1972, 41 (01) :363-+
[3]   SYSTEMIC CARNITINE DEFICIENCY SIMULATING REYE-SYNDROME [J].
COATES, PM ;
HALE, DE ;
STANLEY, CA ;
GLASGOW, AM .
JOURNAL OF PEDIATRICS, 1984, 105 (04) :679-679
[4]   SEPARATION, PROPERTIES, AND REGULATION OF ACYL COENZYME-A DEHYDROGENASES FROM BOVINE HEART AND LIVER [J].
DAVIDSON, B ;
SCHULZ, H .
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1982, 213 (01) :155-162
[5]   DICARBOXYLIC ACIDURIA DUE TO MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFECT - A CAUSE OF HYPOGLYCEMIA IN CHILDHOOD [J].
DIVRY, P ;
DAVID, M ;
GREGERSEN, N ;
KOLVRAA, S ;
CHRISTENSEN, E ;
COLLET, JP ;
DELLAMONICA, C ;
COTTE, J .
ACTA PAEDIATRICA SCANDINAVICA, 1983, 72 (06) :943-949
[6]  
ENTZ R, 1982, AM J HUM GENET, V33, pA63
[7]   PURIFICATION AND PROPERTIES OF RAT-LIVER ACYL-COA DEHYDROGENASES AND ELECTRON-TRANSFER FLAVOPROTEIN [J].
FURUTA, S ;
MIYAZAWA, S ;
HASHIMOTO, T .
JOURNAL OF BIOCHEMISTRY, 1981, 90 (06) :1739-1750
[8]   INDUCTION OF ACYL-COA DEHYDROGENASES AND ELECTRON-TRANSFER FLAVOPROTEIN AND THEIR ROLES IN FATTY-ACID OXIDATION IN RAT-LIVER MITOCHONDRIA [J].
FURUTA, S ;
MIYAZAWA, S ;
HASHIMOTO, T .
JOURNAL OF BIOCHEMISTRY, 1981, 90 (06) :1751-1756
[9]   GLUTARIC ACIDEMIA TYPE-II (MULTIPLE ACYL-COA DEHYDROGENATION DEFICIENCY) [J].
GOODMAN, SI ;
FRERMAN, FE .
JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 :33-37
[10]   SUBERYLGLYCINE EXCRETION IN URINE FROM A PATIENT WITH DICARBOXYLIC ACIDURIA [J].
GREGERSEN, N ;
LAURITZEN, R ;
RASMUSSEN, K .
CLINICA CHIMICA ACTA, 1976, 70 (03) :417-425
1234