THIAMINE-RESPONSIVE INBORN-ERRORS OF METABOLISM

被引:21
作者
DURAN, M
WADMAN, SK
机构
关键词
D O I
10.1007/BF01800663
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:70 / 75
页数:6
相关论文
共 24 条
[1]  
BLASS JP, 1970, CLIN RES, V18, P393
[2]  
BRUNETTE MG, 1972, PEDIATRICS, V50, P702
[3]   THIAMIN-RESPONSIVE MAPLE-SYRUP-URINE DISEASE - DECREASED AFFINITY OF THE MUTANT BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE FOR ALPHA-KETOISOVALERATE AND THIAMIN PYROPHOSPHATE [J].
CHUANG, DT ;
KU, LS ;
COX, RP .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (10) :3300-3304
[4]   THIAMINE TRIPHOSPHATE DEFICIENCY IN SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY [J].
COOPER, JR ;
ITOKAWA, Y ;
PINCUS, JH .
SCIENCE, 1969, 164 (3875) :74-&
[5]   INVIVO AND INVITRO RESPONSE OF HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE TO THIAMINE AND THIAMINE PYROPHOSPHATE [J].
DANNER, DJ ;
WHEELER, FB ;
LEMMON, SK ;
ELSAS, LJ .
PEDIATRIC RESEARCH, 1978, 12 (03) :235-238
[6]   CLINICAL-CHEMISTRY OF THIAMIN [J].
DAVIS, RE ;
ICKE, GC .
ADVANCES IN CLINICAL CHEMISTRY, 1983, 23 :93-140
[7]   EFFECTS OF THIAMINE IN A PATIENT WITH A VARIANT FORM OF BRANCHED-CHAIN KETOACIDURIA [J].
DURAN, M ;
TIELENS, AGM ;
WADMAN, SK ;
STIGTER, JCM ;
KLEIJER, WJ .
ACTA PAEDIATRICA SCANDINAVICA, 1978, 67 (03) :367-372
[8]  
Elsas L., 1981, METABOLISM CLIN IMPL, P369
[9]   THE ROLE OF THIAMIN IN MAPLE SYRUP URINE DISEASE [J].
ELSAS, LJ ;
DANNER, DJ .
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1982, 378 (MAR) :404-421
[10]   INTERMITTENT MAPLE SYRUP URINE DISEASE IN A 12-YEAR-OLD BOY [J].
FRITSCH, G ;
LANGENBECK, U ;
WENDEL, U ;
LEHNERT, W ;
PALM, W ;
STEGER, W .
KLINISCHE PADIATRIE, 1983, 195 (05) :351-354