SYSTEMIC CARNITINE DEFICIENCY - A TREATABLE INHERITED LIPID-STORAGE DISEASE PRESENTING AS REYES-SYNDROME

被引:243
作者
CHAPOY, PR
ANGELINI, C
BROWN, WJ
STIFF, JE
SHUG, AL
CEDERBAUM, SD
机构
[1] UNIV CALIF LOS ANGELES,REED NEUROL RES CTR,CTR HLTH SCI,DEPT NEUROL,LOS ANGELES,CA 90024
[2] UNIV CALIF LOS ANGELES,REED NEUROL RES CTR,CTR HLTH SCI,DEPT PATHOL,LOS ANGELES,CA 90024
[3] UNIV CALIF LOS ANGELES,REED NEUROL RES CTR,CTR HLTH SCI,DEPT PSYCHIAT,LOS ANGELES,CA 90024
[4] UNIV CALIF LOS ANGELES,CTR HLTH SCI,MENTAL RETARDAT RES CTR,LOS ANGELES,CA 90024
[5] VET ADM HOSP,MADISON,WI 53706
[6] UNIV WISCONSIN,MADISON,WI 53706
关键词
D O I
10.1056/NEJM198012113032403
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1389 / 1394
页数:6
相关论文
共 31 条
[1]   CARNITINE DEFICIENCY - ACUTE POSTPARTUM CRISIS [J].
ANGELINI, C ;
GOVONI, E ;
BRAGAGLIA, MM ;
VERGANI, L .
ANNALS OF NEUROLOGY, 1978, 4 (06) :558-561
[2]   CARNITINE DEFICIENCY OF SKELETAL-MUSCLE - REPORT OF A TREATED CASE [J].
ANGELINI, C ;
LUCKE, S ;
CANTARUTTI, F .
NEUROLOGY, 1976, 26 (07) :633-637
[3]   DISORDER OF MUSCLE LIPID-METABOLISM AND MYOGLOBINURIA - ABSENCE OF CARNITINE PALMITYL TRANSFERASE [J].
BANK, WJ ;
DIMAURO, S ;
BONILLA, E ;
CAPUZZI, DM ;
ROWLAND, LP .
NEW ENGLAND JOURNAL OF MEDICINE, 1975, 292 (09) :443-449
[4]  
BATTISTELLA PA, 1978, LANCET, V1, P939
[5]   FATAL SYSTEMIC CARNITINE DEFICIENCY WITH LIPID STORAGE IN SKELETAL-MUSCLE, HEART, LIVER AND KIDNEY [J].
BOUDIN, G ;
MIKOL, J ;
GUILLARD, A ;
ENGEL, AG .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1976, 30 (2-3) :313-325
[6]  
BOUGNERES PF, 1980, NEW ENGL J MED, V302, P123
[7]   GLYCEMIC RESPONSE TO 24 HOUR FAST IN NORMAL CHILDREN AND CHILDREN WITH KETOTIC HYPOGLYCEMIA [J].
CHAUSSAIN, JL .
JOURNAL OF PEDIATRICS, 1973, 82 (03) :438-443
[8]   FATAL CASES OF LIPID STORAGE MYOPATHY WITH CARNITINE DEFICIENCY [J].
CORNELIO, F ;
DIDONATO, S ;
PELUCHETTI, D ;
BIZZI, A ;
BERTAGNOLIO, B ;
DANGELO, A ;
WIESMANN, U .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1977, 40 (02) :170-178
[9]   REYE SYNDROME - METABOLIC RESPONSE TO AN ACUTE MITOCHONDRIAL INSULT [J].
DEVIVO, DC .
NEUROLOGY, 1978, 28 (02) :105-108
[10]   HEPATIC KETOGENESIS AND MUSCLE CARNITINE DEFICIENCY [J].
DIDONATO, S ;
CORNELIO, F ;
STORCHI, G ;
RIMOLDI, M .
NEUROLOGY, 1979, 29 (06) :780-785