HEPATIC AND MUSCULAR PRESENTATIONS OF CARNITINE PALMITOYL TRANSFERASE DEFICIENCY - 2 DISTINCT ENTITIES

被引:111
作者
DEMAUGRE, F
BONNEFONT, JP
MITCHELL, G
NAM, NH
PELET, A
RIMOLDI, M
DIDONATO, S
SAUDUBRAY, JM
机构
[1] HOP NECKER ENFANTS MALAD,INSERM,U12,RECH GENET MED CLIN,F-75743 PARIS 15,FRANCE
[2] HOP NECKER ENFANTS MALAD,INSERM,U12,UNITE RECH GENET MED,F-75743 PARIS 15,FRANCE
[3] IST NEUROL C BESTA,NEUROMETAB DIS LAB,I-20133 MILAN,ITALY
关键词
D O I
10.1203/00006450-198809000-00006
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:308 / 311
页数:4
相关论文
共 25 条
  • [1] SUBSTRATE TURNOVER DURING PROLONGED EXERCISE IN MAN - SPLANCHNIC AND LEG METABOLISM OF GLUCOSE, FREE FATTY-ACIDS, AND AMINO-ACIDS
    AHLBORG, G
    FELIG, P
    HAGENFELDT, L
    HENDLER, R
    WAHREN, J
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1974, 53 (04) : 1080 - 1090
  • [2] FASTING HYPOGLYCEMIA RESULTING FROM HEPATIC CARNITINE PALMITOYL TRANSFERASE DEFICIENCY
    BOUGNERES, PF
    SAUDUBRAY, JM
    MARSAC, C
    BERNARD, O
    ODIEVRE, M
    GIRARD, J
    [J]. JOURNAL OF PEDIATRICS, 1981, 98 (05) : 742 - 746
  • [3] BREMER J, 1968, BIOCHEM PREP, V12, P69
  • [4] DECLERCQ PE, 1987, J BIOL CHEM, V262, P9812
  • [5] HETEROGENEITY OF CARNITINE-PALMITOYLTRANSFERASE DEFICIENCY
    DIDONATO, S
    CASTIGLIONE, A
    RIMOLDI, M
    CORNELIO, F
    VENDEMIA, F
    CARDACE, G
    BERTAGNOLIO, B
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1981, 50 (02) : 207 - 215
  • [6] MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY - CASE WITH ENZYME DEFICIENCY IN CULTURED FIBROBLASTS
    DIDONATO, S
    CORNELIO, F
    PACINI, L
    PELUCHETTI, D
    RIMOLDI, M
    SPREAFICO, S
    [J]. ANNALS OF NEUROLOGY, 1978, 4 (05) : 465 - 467
  • [7] MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY AND MYOGLOBINURIA
    DIMAURO, S
    DIMAURO, PMM
    [J]. SCIENCE, 1973, 182 (4115) : 929 - 931
  • [8] DIMAURO S, 1982, DISORDERS MOTOR UNIT, P657
  • [9] LONG-CHAIN ACYL COENZYME-A DEHYDROGENASE-DEFICIENCY - AN INHERITED CAUSE OF NONKETOTIC HYPOGLYCEMIA
    HALE, DE
    BATSHAW, ML
    COATES, PM
    FRERMAN, FE
    GOODMAN, SI
    SINGH, I
    STANLEY, CA
    [J]. PEDIATRIC RESEARCH, 1985, 19 (07) : 666 - 671
  • [10] LOWRY OH, 1951, J BIOL CHEM, V193, P265