Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency

被引:187
作者
Montini, Giovanni [1 ]
Malaventura, Cristina [2 ]
Salviati, Leonardo [3 ]
机构
[1] Azienda Osped, I-35128 Padua, Italy
[2] Univ Ferrara, I-44100 Ferrara, Italy
[3] Univ Padua, I-35128 Padua, Italy
关键词
D O I
10.1056/NEJMc0800582
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:2849 / 2850
页数:3
相关论文
共 5 条
[1]   COQ2 nephropathy:: A newly described inherited mitochondriopathy with primary renal involvement [J].
Diomedi-Camassei, Francesca ;
Di Giandomenico, Silvia ;
Santorelli, Filippo M. ;
Caridi, Gianluca ;
Piemonte, Fiorella ;
Montini, Giovanni ;
Ghiggeri, Gian Marco ;
Murer, Luisa ;
Barisoni, Laura ;
Pastore, Anna ;
Muda, Andrea Onetti ;
Valente, Maria Luisa ;
Bertini, Enrico ;
Emma, Francesco .
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2007, 18 (10) :2773-2780
[2]   Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis [J].
Lopez-Martin, Jose M. ;
Salviati, Leonardo ;
Trevisson, Eva ;
Montini, Giovanni ;
DiMauro, Salvatore ;
Quinzii, Catarina ;
Hirano, Michio ;
Rodriguez-Hernandez, Angeles ;
Cordero, Mario D. ;
Sanchez-Alcazar, Jose A. ;
Santos-Ocana, Carlos ;
Navas, Placido .
HUMAN MOLECULAR GENETICS, 2007, 16 (09) :1091-1097
[3]   A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency [J].
Quinzii, C ;
Naini, A ;
Salviati, L ;
Trevisson, E ;
Navas, P ;
DiMauro, S ;
Hirano, M .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (02) :345-349
[4]   Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency [J].
Rötig, A ;
Appelkvist, EL ;
Geromel, V ;
Chretien, D ;
Kadhom, N ;
Edery, P ;
Lebideau, M ;
Dallner, G ;
Munnich, A ;
Ernster, L ;
Rustin, P .
LANCET, 2000, 356 (9227) :391-395
[5]   Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition [J].
Salviati, L ;
Sacconi, S ;
Murer, L ;
Zacchello, G ;
Franceschini, L ;
Laverda, AM ;
Basso, G ;
Quinzii, C ;
Angelini, C ;
Hirano, M ;
Naini, B ;
Navas, P ;
DiMauro, S ;
Montini, G .
NEUROLOGY, 2005, 65 (04) :606-608