Primary carnitine deficiency (PCD) as a novel cause of hereditary recurrent myoglobinuria.

被引:0
作者
Invernizzi, F [1 ]
Garavaglia, B [1 ]
Mora, M [1 ]
Antozzi, C [1 ]
Taroni, F [1 ]
机构
[1] Ist Nazl Neurol C Besta, Milan, Italy
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
1323
引用
收藏
页码:A238 / A238
页数:1
相关论文
共 50 条
  • [1] CARNITINE PALMITOYLTRANSFERASE DEFICIENCY - A COMMON CAUSE OF RECURRENT MYOGLOBINURIA
    SADEH, M
    GUTMAN, A
    ISRAEL JOURNAL OF MEDICAL SCIENCES, 1990, 26 (09): : 510 - 515
  • [2] RECURRENT MYOGLOBINURIA AND MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY
    HERMAN, J
    NADLER, HL
    JOURNAL OF PEDIATRICS, 1977, 91 (02) : 247 - 250
  • [3] RECURRENT MYOGLOBINURIA AND MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY
    HERMAN, JJ
    GUMBINAS, M
    NADLER, HL
    PEDIATRIC RESEARCH, 1975, 9 (04) : 351 - 351
  • [4] RECURRENT MYOGLOBINURIA (RM) DUE TO CARNITINE PALMITYLTRANSFERASE (CPT) DEFICIENCY
    PAMIESANDREU, E
    SANCHEZROMAN, J
    BAUTISTA, J
    SEGURA, DI
    REVISTA CLINICA ESPANOLA, 1987, 180 (08): : 462 - 463
  • [5] RECURRENT MYOGLOBINURIA DUE TO MUSCLE CARNITINE PALMITYL TRANSFERASE DEFICIENCY
    REZA, MJ
    KAR, NC
    PEARSON, CM
    KARK, RAP
    ANNALS OF INTERNAL MEDICINE, 1978, 88 (05) : 610 - 615
  • [6] RECURRENT EXERTIONAL MYALGIA AND MYOGLOBINURIA DUE TO CARNITINE PALMITYLTRANSFERASE DEFICIENCY
    ARGOV, Z
    DIMAURO, S
    ISRAEL JOURNAL OF MEDICAL SCIENCES, 1983, 19 (06): : 552 - 554
  • [7] RECURRENT MYOGLOBINURIA DUE TO MUSCLE CARNITINE PALMITYL TRANSFERASE DEFICIENCY
    REZA, MJ
    KAR, NC
    KARK, P
    PEARSON, CM
    ARTHRITIS AND RHEUMATISM, 1977, 20 (01): : 132 - 133
  • [8] Lipoamide dehydrogenase deficiency: A new cause for recurrent myoglobinuria
    Elpeleg, ON
    Saada, AB
    Shaag, A
    Glustein, JZ
    Ruitenbeek, W
    Tein, I
    Halevy, J
    MUSCLE & NERVE, 1997, 20 (02) : 238 - 240
  • [9] PHOSPHOGLYCERATE KINASE-DEFICIENCY - ANOTHER CAUSE OF RECURRENT MYOGLOBINURIA
    DIMAURO, S
    DALAKAS, M
    MIRANDA, AF
    ANNALS OF NEUROLOGY, 1983, 13 (01) : 11 - 19
  • [10] PHOSPHOGLYCERATE KINASE-DEFICIENCY - A NEW CAUSE OF RECURRENT MYOGLOBINURIA
    DIMAURO, S
    DALAKAS, M
    MIRANDA, AF
    TRANSACTIONS OF THE AMERICAN NEUROLOGICAL ASSOCIATION, 1981, 106 : 202 - 205