Mutation screening in patients with isolated cytochrome C oxidase deficiency

被引：0
|
作者：
Salviati, L
Sacconi, S
Sue, CM
Shanske, S
Davidson, MM
Bonilla, E
Naini, AB
DeVivo, DC
DiMauro, S
机构：
来源：
JOURNAL OF THE NEUROLOGICAL SCIENCES | 2002年 / 199卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
P430
引用
收藏
页码：S71 / S71
页数：1
相关论文
共 50 条
  • [31] Severe isolated sulfide oxidase deficiency with a novel mutation
    Ergene, Merit
    Yarar, Nuriye
    Oncel, Elif Perihan
    Sezer, Taner
    Cavdarli, Busranur
    Ecevit, Ismail Zafer
    Aydin, Halil Ibrahim
    TURKISH JOURNAL OF PEDIATRICS, 2021, 63 (04) : 716 - 720
  • [32] A novel mutation in neonatal isolated sulphite oxidase deficiency
    Lee, HF
    Mak, BSC
    Chi, CS
    Tsai, CR
    Chen, CH
    Shu, SG
    NEUROPEDIATRICS, 2002, 33 (04) : 174 - 179
  • [33] CYTOCHROME C OXIDASE SYNTHESIS IN ISOLATED MITOCHONDRIA
    RASCATI, RJ
    MASON, TL
    PARSONS, P
    JOURNAL OF CELL BIOLOGY, 1973, 59 (02): : A278 - A278
  • [34] Impaired redox status and cytochrome c oxidase deficiency in patients with polymyalgia rheumatica
    Chariot, P
    Chevalier, X
    Yerroum, M
    Drogou, I
    Authier, FJ
    Gherardi, R
    ANNALS OF THE RHEUMATIC DISEASES, 2001, 60 (11) : 1016 - 1020
  • [35] VARIABLE PRESENTATION OF CYTOCHROME-C-OXIDASE DEFICIENCY
    KEPPLER, K
    CUNNIFF, C
    AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1992, 146 (11): : 1349 - 1352
  • [36] MUSCLE PATHOLOGY IN CYTOCHROME-C OXIDASE DEFICIENCY
    NONAKA, I
    KOGA, Y
    SHIKURA, K
    KOBAYASHI, M
    SUGIYAMA, N
    OKINO, E
    NIHEI, K
    TOJO, M
    SEGAWA, M
    ACTA NEUROPATHOLOGICA, 1988, 77 (02) : 152 - 160
  • [37] MITOCHONDRIAL MYOPATHY WITH CYTOCHROME-C-OXIDASE DEFICIENCY
    WALLACE, SJ
    HUGHES, IA
    JOHNSON, MA
    STANSBIE, D
    MINCHOM, PE
    NEUROPEDIATRICS, 1983, 14 (02) : 127 - 127
  • [38] A NEW GLYCOGENOSIS OR CYTOCHROME-C-OXIDASE DEFICIENCY
    KOUSSEFF, BG
    GUNDERMAN, JR
    PACKER, JT
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 25 (04): : 748 - 749
  • [39] THE CLINICAL SPECTRUM OF CYTOCHROME-C OXIDASE DEFICIENCY
    ARMSTRONG, DL
    SAULS, CD
    GOODMAN, JC
    ZELLER, R
    DIMAURO, S
    CLINICAL BIOCHEMISTRY, 1983, 16 (05) : A28 - A28
  • [40] LEIGHS SYNDROME AND CYTOCHROME-C-OXIDASE DEFICIENCY
    DEVIVO, DC
    RUSSMAN, BS
    DODSON, WE
    DIMAURO, S
    ANNALS OF NEUROLOGY, 1987, 22 (03) : 445 - 446
12345