VARIABLE CLINICAL PRESENTATION IN PATIENTS WITH DEFECTIVE E1 COMPONENT OF PYRUVATE-DEHYDROGENASE COMPLEX

被引：152

作者：

ROBINSON, BH ^{[1
]}

MACMILLAN, H ^{[1
]}

PETROVABENEDICT, R ^{[1
]}

SHERWOOD, WG ^{[1
]}

机构：

[1] UNIV TORONTO, DEPT PEDIAT & BIOCHEM, TORONTO M5S 1A1, ONTARIO, CANADA

来源：

JOURNAL OF PEDIATRICS | 1987年 / 111卷 / 04期

关键词：

D O I：

10.1016/S0022-3476(87)80112-9

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：525 / 533

页数：9

共 35 条

[11] STUDIES ON PYRUVATE-CARBOXYLASE, PYRUVATE DECARBOXYLASE AND LIPOAMIDE DEHYDROGENASE IN SUB-ACUTE NECROTIZING ENCEPHALOMYELOPATHY
HANSEN, TL
CHRISTENSEN, E
BRANDT, NJ
[J]. ACTA PAEDIATRICA SCANDINAVICA, 1982, 71 (02): : 263 - 267
[12] DEFICIENCY OF THE PYRUVATE-DEHYDROGENASE COMPONENT IN PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENT HUMAN-FIBROBLASTS - IMMUNOLOGICAL IDENTIFICATION
HO, L
HU, CWC
PACKMAN, S
PATEL, MS
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1986, 78 (03) : 844 - 847
[13] EFFECT OF THIAMINE TREATMENT ON ACTIVITY OF PYRUVATE DEHYDROGENASE - RELATION TO TREATMENT OF LEIGHS ENCEPHALOMYELOPATHY
HOMMES, FA
BERGER, R
LUITDEHA.G
[J]. PEDIATRIC RESEARCH, 1973, 7 (07) : 616 - 619
[14] THE EFFECT OF A HIGH-FAT DIET ON PYRUVATE DECARBOXYLASE DEFICIENCY WITHOUT CENTRAL NERVOUS-SYSTEM INVOLVEMENT
KODAMA, S
YAGI, R
NINOMIYA, M
GOJI, K
TAKAHASHI, T
MORISHITA, Y
MATSUO, T
[J]. BRAIN & DEVELOPMENT, 1983, 5 (04) : 381 - 389
[15] TREATMENT OF CHRONIC CONGENITAL LACTIC-ACIDOSIS BY ORAL-ADMINISTRATION OF DICHLOROACETATE
KURODA, Y
ITO, M
TOSHIMA, K
TAKEDA, E
NAITO, E
HWANG, TJ
HASHIMOTO, T
MIYAO, M
MASUDA, M
YAMASHITA, K
ADACHI, T
SUZUKI, Y
NISHIYAMA, K
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1986, 9 (03) : 244 - 252
[16] ALPHA-KETO ACID DEHYDROGENASE COMPLEXES .11. COMPARATIVE STUDIES OF REGULATORY PROPERTIES OF PYRUVATE DEHYDROGENASE COMPLEXES FROM KIDNEY, HEART, AND LIVER MITOCHONDRIA
LINN, TC
PETTIT, FH
HUCHO, F
REED, LJ
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1969, 64 (01) : 227 - &
[17] FATAL CASE OF PYRUVATE-DEHYDROGENASE DEFICIENCY
MATSUO, M
OOKITA, K
TAKEMINE, H
KOIKE, K
KOIKE, M
[J]. ACTA PAEDIATRICA SCANDINAVICA, 1985, 74 (01): : 140 - 142
[18] PARTIAL PYRUVATE DECARBOXYLASE DEFICIENCY WITH PROFOUND LACTIC-ACIDOSIS AND HYPERAMMONEMIA - RESPONSES TO DICHLOROACETATE AND BENZOATE
MCCORMICK, K
VISCARDI, RM
ROBINSON, B
HEININGER, J
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 22 (02): : 291 - 299
[19] LACTICACIDEMIA DUE TO PYRUVATE-DEHYDROGENASE DEFICIENCY, WITH EVIDENCE OF PROTEIN POLYMORPHISM IN THE ALPHA-SUBUNIT OF THE ENZYME
MCKAY, N
PETROVABENEDICT, R
THOENE, J
BERGEN, B
WILSON, W
ROBINSON, B
[J]. EUROPEAN JOURNAL OF PEDIATRICS, 1986, 144 (05) : 445 - 450
[20] BIOCHEMICAL-STUDY IN 28 CHILDREN WITH LACTIC-ACIDOSIS, IN RELATION TO LEIGHS ENCEPHALOMYELOPATHY
MIYABAYASHI, S
ITO, T
NARISAWA, K
IINUMA, K
TADA, K
[J]. EUROPEAN JOURNAL OF PEDIATRICS, 1985, 143 (04) : 278 - 283

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