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
    ANGELINI, C
    GOVONI, E
    BRAGAGLIA, MM
    VERGANI, L
    [J]. ANNALS OF NEUROLOGY, 1978, 4 (06) : 558 - 561
  • [2] CARNITINE DEFICIENCY OF SKELETAL-MUSCLE - REPORT OF A TREATED CASE
    ANGELINI, C
    LUCKE, S
    CANTARUTTI, F
    [J]. NEUROLOGY, 1976, 26 (07) : 633 - 637
  • [3] DISORDER OF MUSCLE LIPID-METABOLISM AND MYOGLOBINURIA - ABSENCE OF CARNITINE PALMITYL TRANSFERASE
    BANK, WJ
    DIMAURO, S
    BONILLA, E
    CAPUZZI, DM
    ROWLAND, LP
    [J]. 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
    BOUDIN, G
    MIKOL, J
    GUILLARD, A
    ENGEL, AG
    [J]. 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
    CHAUSSAIN, JL
    [J]. JOURNAL OF PEDIATRICS, 1973, 82 (03) : 438 - 443
  • [8] FATAL CASES OF LIPID STORAGE MYOPATHY WITH CARNITINE DEFICIENCY
    CORNELIO, F
    DIDONATO, S
    PELUCHETTI, D
    BIZZI, A
    BERTAGNOLIO, B
    DANGELO, A
    WIESMANN, U
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1977, 40 (02) : 170 - 178
  • [9] REYE SYNDROME - METABOLIC RESPONSE TO AN ACUTE MITOCHONDRIAL INSULT
    DEVIVO, DC
    [J]. NEUROLOGY, 1978, 28 (02) : 105 - 108
  • [10] HEPATIC KETOGENESIS AND MUSCLE CARNITINE DEFICIENCY
    DIDONATO, S
    CORNELIO, F
    STORCHI, G
    RIMOLDI, M
    [J]. NEUROLOGY, 1979, 29 (06) : 780 - 785