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
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
  • [1] Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency
    Sabrina Sacconi
    Leonardo Salviati
    Carolyn M Sue
    Sara Shanske
    Mercy M Davidson
    Eduardo Bonilla
    Ali B Naini
    Darryl C De Vivo
    Salvatore Dimauro
    Pediatric Research, 2003, 53 : 224 - 230
  • [2] Mutation screening in patients with isolated cytochrome c oxidase deficiency
    Sacconi, S
    Salviati, L
    Sue, CM
    Shanske, S
    Davidson, MM
    Bonilla, E
    Naini, AB
    De Vivo, DC
    DiMauro, S
    PEDIATRIC RESEARCH, 2003, 53 (02) : 224 - 230
  • [3] Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency
    Sabrina Sacconi
    Leonardo Salviati
    Eva Trevisson
    Journal of Human Genetics, 2009, 54 : 419 - 421
  • [4] Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency
    Sacconi, Sabrina
    Salviati, Leonardo
    Trevisson, Eva
    JOURNAL OF HUMAN GENETICS, 2009, 54 (07) : 419 - 421
  • [5] Isolated cytochrome c oxidase deficiency as a cause of MELAS
    Rossmanith, W.
    Freilinger, M.
    Roka, J.
    Raffelsberger, T.
    Moser-Thier, K.
    Prayer, D.
    Bernert, G.
    Bittner, R. E.
    JOURNAL OF MEDICAL GENETICS, 2008, 45 (02) : 117 - 121
  • [6] Cytochrome c oxidase deficiency in a child with isolated myopathy
    Karadag, A
    Avci, Z
    Catal, F
    Odemis, E
    FETAL AND PEDIATRIC PATHOLOGY, 2005, 24 (03) : 149 - 153
  • [7] Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency
    von Kleist-Retzow, JC
    Vial, E
    Chantrel-Groussard, K
    Rötig, A
    Munnich, A
    Rustin, P
    Taanman, JW
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1999, 1455 (01): : 35 - 44
  • [8] Cytochrome c oxidase deficiency
    Shoubridge, EA
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 106 (01): : 46 - 52
  • [9] Cytochrome c oxidase deficiency
    Brischigliaro, Michele
    Zeviani, Massimo
    BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2021, 1862 (01):
  • [10] Cytochrome c oxidase deficiency
    Comi, GP
    Strazzer, S
    Galbiati, S
    Bresolin, N
    MITOCHONDRIAL FUNCTION AND DYSFUNCTION, 2002, 53 : 205 - 240