SYNDROME OF SYSTEMIC CARNITINE DEFICIENCY - CLINICAL, MORPHOLOGIC, BIOCHEMICAL, AND PATHOPHYSIOLOGIC FEATURES

被引:394
作者
KARPATI, G
CARPENTER, S
ENGEL, AG
WATTERS, G
ALLEN, J
ROTHMAN, S
KLASSEN, G
MAMER, OA
机构
[1] MCGILL UNIV,DEPT MED,MONTREAL,QUEBEC,CANADA
[2] MAYO CLIN & MAYO FDN,ROCHESTER,MN
[3] MCGILL UNIV,DEPT NEUROL & NEUROSURG,MONTREAL,QUEBEC,CANADA
[4] MCGILL UNIV,DEPT PEDIAT,MONTREAL,QUEBEC,CANADA
关键词
D O I
10.1212/WNL.25.1.16
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:16 / 24
页数:9
相关论文
共 28 条
  • [1] BANKER B, UNPUBLISHED OBSERVAT
  • [2] BREMER J, 1962, J BIOL CHEM, V237, P2228
  • [3] BROQUIST HP, 1973, FED PROC, V32, P884
  • [4] CARPENTER S, 1974, NEUROLOGY, V6, P531
  • [5] METHOD FOR DETERMINATION OF CARNITINE IN PICOMOLE RANGE
    CEDERBLA.G
    LINDSTED.S
    [J]. CLINICA CHIMICA ACTA, 1972, 37 (NMAR) : 235 - &
  • [6] BIOSYNTHESIS OF CARNITINE AND 4-N-TRIMETHYLAMINOBUTYRATE FROM LYSINE
    COX, RA
    HOPPEL, CL
    [J]. BIOCHEMICAL JOURNAL, 1973, 136 (04) : 1075 - 1082
  • [7] SERUM CARNITINE - INDEX OF MUSCLE DESTRUCTION IN MAN
    DIMAURO, S
    SCOTT, C
    PENN, AS
    ROWLAND, LP
    [J]. ARCHIVES OF NEUROLOGY, 1973, 28 (03) : 186 - 190
  • [8] URINARY-EXCRETION OF C6-C10 DICARBOXYLIC-ACIDS IN GLYCOGEN-STORAGE DISEASE TYPES I AND III
    DOSMAN, J
    CRAWHALL, JC
    KLASSEN, GA
    MAMER, OA
    NEUMANN, P
    [J]. CLINICA CHIMICA ACTA, 1974, 51 (01) : 93 - 101
  • [9] ENGEL AEJ, IN PRESS
  • [10] CARNITINE DEFICIENCY OF HUMAN SKELETAL-MUSCLE WITH ASSOCIATED LIPID STORAGE MYOPATHY - NEW SYNDROME
    ENGEL, AG
    ANGELINI, C
    [J]. SCIENCE, 1973, 179 (4076) : 899 - 902