DISORDERS OF THE PYRUVATE-DEHYDROGENASE COMPLEX

被引：54
作者：
STANSBIE, D
WALLACE, SJ
MARSAC, C
机构：
[1] UNIV WALES COLL MED, DEPT CHILD HLTH, CARDIFF CF4 4XN, S GLAM, WALES
[2] FAC MED NECKER ENFANTS MALAD, F-75730 PARIS 15, FRANCE
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1986年 / 9卷 / 02期
关键词：
D O I：
10.1007/BF01799447
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：105 / 119
页数：15
相关论文
共 68 条
[1]  
BLASS J P, 1970, Journal of Clinical Investigation, V49, P423, DOI 10.1172/JCI106251
[2]  
BLASS JP, 1976, LANCET, V1, P1237
[3]   RAPID DIAGNOSIS OF PYRUVATE AND KETOGLUTARATE DEHYDROGENASE DEFICIENCIES IN PLATELET-ENRICHED PREPARATIONS FROM BLOOD [J].
BLASS, JP ;
CEDERBAUM, SD ;
KARK, RAP .
CLINICA CHIMICA ACTA, 1977, 75 (01) :21-30
[4]   LOW ACTIVITIES OF PYRUVATE AND OXOGLUTARATE DEHYDROGENASE COMPLEXES IN 5 PATIENTS WITH FRIEDREICHS ATAXIA [J].
BLASS, JP ;
KARK, RAP ;
MENON, NK .
NEW ENGLAND JOURNAL OF MEDICINE, 1976, 295 (02) :62-67
[5]   CLINICAL STUDIES OF A PATIENT WITH PYRUVATE DECARBOXYLASE DEFICIENCY [J].
BLASS, JP ;
KARK, RAP ;
ENGEL, WK .
ARCHIVES OF NEUROLOGY, 1971, 25 (05) :449-&
[6]   INHERITED DEFECT AFFECTING TRICARBOXYLIC ACID CYCLE IN A PATIENT WITH CONGENITAL LACTIC ACIDOSIS [J].
BLASS, JP ;
SCHULMAN, JD ;
YOUNG, DS ;
HOM, E .
JOURNAL OF CLINICAL INVESTIGATION, 1972, 51 (07) :1845-&
[7]  
BLASS JP, 1971, LANCET, V1, P1302
[8]   HYPER-ENDORPHIN SYNDROME IN A CHILD WITH NECROTIZING ENCEPHALOMYELOPATHY [J].
BRANDT, NJ ;
TERENIUS, L ;
JACOBSEN, BB ;
KLINKEN, L ;
NORDIUS, A ;
BRANDT, S ;
BLEGVAD, K ;
YSSING, M .
NEW ENGLAND JOURNAL OF MEDICINE, 1980, 303 (16) :914-916
[9]   DISTRIBUTION OF PHOSPHATE-ACTIVATED GLUTAMINASE, SUCCINIC-DEHYDROGENASE, PYRUVATE-DEHYDROGENASE AND GAMMA-GLUTAMYL-TRANSFERASE TRANSPEPTIDASE IN POST-MORTEM BRAIN FROM HUNTINGTONS-DISEASE AND AGONAL CASES [J].
BUTTERWORTH, J ;
YATES, CM ;
REYNOLDS, GP .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1985, 67 (02) :161-171
[10]   SENSITIVITY TO CARBOHYDRATE IN A PATIENT WITH FAMILIAL INTERMITTENT LACTIC-ACIDOSIS AND PYRUVATE-DEHYDROGENASE DEFICIENCY [J].
CEDERBAUM, SD ;
BLASS, JP ;
MINKOFF, N ;
BROWN, WJ ;
COTTON, ME ;
HARRIS, SH .
PEDIATRIC RESEARCH, 1976, 10 (08) :713-720
1234567