ELECTRON-TRANSFER FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE (ETF-QO) DEFICIENCY IN AN ADULT

被引:24
作者
BELL, RB
BROWNELL, AKW
ROE, CR
ENGEL, AG
GOODMAN, SI
FRERMAN, FE
SECCOMBE, DW
SNYDER, FF
机构
[1] UNIV CALGARY,FOOTHILLS HOSP,DEPT CLIN NEUROSCI,1403 29TH ST NW,CALGARY T2N 2T9,ALBERTA,CANADA
[2] UNIV CALGARY,CALGARY T2N 1N4,ALBERTA,CANADA
[3] UNIV BRITISH COLUMBIA HOSP,DEPT MED BIOCHEM,VANCOUVER,BC,CANADA
[4] ALBERTA CHILDRENS PROV GEN HOSP,CALGARY,ALBERTA,CANADA
[5] DUKE UNIV,DEPT PEDIAT,DIV GENET & METAB,DURHAM,NC 27706
[6] MAYO CLIN & MAYO FDN,DEPT NEUROL,ROCHESTER,MN 55905
[7] UNIV COLORADO,SCH MED,DEPT PEDIAT,DENVER,CO 80202
关键词
D O I
10.1212/WNL.40.11.1779
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1779 / 1782
页数:4
相关论文
共 17 条
[1]   GLUTARIC ACIDURIA TYPE-II - EVIDENCE FOR A DEFECT RELATED TO THE ELECTRON-TRANSFER FLAVOPROTEIN OR ITS DEHYDROGENASE [J].
CHRISTENSEN, E ;
KOLVRAA, S ;
GREGERSEN, N .
PEDIATRIC RESEARCH, 1984, 18 (07) :663-667
[2]   RIBOFLAVIN-RESPONSIVE LIPID-STORAGE MYOPATHY AND GLUTARIC ACIDURIA TYPE-II OF EARLY ADULT ONSET [J].
DEVISSER, M ;
SCHOLTE, HR ;
SCHUTGENS, RBH ;
BOLHUIS, PA ;
LUYTHOUWEN, IEM ;
VAANDRAGERVERDUIN, MHM ;
VEDER, HA ;
OEY, PL .
NEUROLOGY, 1986, 36 (03) :367-372
[3]   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
[4]   PRIMARY SYSTEMIC CARNITINE DEFICIENCY .2. RENAL HANDLING OF CARNITINE [J].
ENGEL, AG ;
REBOUCHE, CJ ;
WILSON, DM ;
GLASGOW, AM ;
ROMSHE, CA ;
CRUSE, RP .
NEUROLOGY, 1981, 31 (07) :819-825
[5]  
ENGEL AG, 1986, MYOLOGY, P1663
[6]   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
[7]   GLUTARIC ACIDEMIA TYPE-II (MULTIPLE ACYL-COA DEHYDROGENATION DEFICIENCY) [J].
GOODMAN, SI ;
FRERMAN, FE .
JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 :33-37
[8]   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
[9]   C-6-C-10-DICARBOXYLIC ACIDURIA - INVESTIGATIONS OF A PATIENT WITH RIBOFLAVIN RESPONSIVE MULTIPLE ACYL-COA DEHYDROGENATION DEFECTS [J].
GREGERSEN, N ;
WINTZENSEN, H ;
KOLVRAA, S ;
CHRISTENSEN, E ;
CHRISTENSEN, MF ;
BRANDT, NJ ;
RASMUSSEN, K .
PEDIATRIC RESEARCH, 1982, 16 (10) :861-868
[10]   MULTIPLE ACYL-COA DEHYDROGENASE-DEFICIENCY OCCURRING IN PREGNANCY AND CAUSED BY A DEFECT IN RIBOFLAVIN METABOLISM IN THE MOTHER - STUDY OF A KINDRED WITH 7 DEATHS IN INFANCY - VALUE OF RIBOFLAVIN THERAPY IN PREVENTING THIS SYNDROME [J].
HARPEY, JP ;
CHARPENTIER, C ;
GOODMAN, SI ;
DARBOIS, Y ;
LEFEBVRE, G ;
SEBBAH, J .
JOURNAL OF PEDIATRICS, 1983, 103 (03) :394-398