scholarly journals Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

2000 ◽  
Vol 67 (5) ◽  
pp. 1104-1109 ◽  
Author(s):  
Isabelle Valnot ◽  
Sandrine Osmond ◽  
Nadine Gigarel ◽  
Blandine Mehaye ◽  
Jeanne Amiel ◽  
...  
1994 ◽  
Vol 153 (3) ◽  
pp. 190-194 ◽  
Author(s):  
Dominique Chretien ◽  
Agn�s R�tig ◽  
Roberto Cerrone ◽  
Daniel Rabier ◽  
Caroline Rambaud ◽  
...  

2000 ◽  
Vol 276 (2) ◽  
pp. 530-533 ◽  
Author(s):  
Rita Horvath ◽  
Hanns Lochmüller ◽  
Rolf Stucka ◽  
Jianbo Yao ◽  
Eric A. Shoubridge ◽  
...  

PLoS ONE ◽  
2017 ◽  
Vol 12 (10) ◽  
pp. e0186517 ◽  
Author(s):  
Arne Björn Potthast ◽  
Theresa Heuer ◽  
Simone Johanna Warneke ◽  
Anibh Martin Das

1994 ◽  
Vol 153 (3) ◽  
pp. 190-194 ◽  
Author(s):  
Patrick Edery ◽  
Bénédicte Gérard ◽  
Dominique Chretien ◽  
Agnès Rötig ◽  
Roberto Cerrone ◽  
...  

2016 ◽  
Vol 130 (6) ◽  
pp. 393-407 ◽  
Author(s):  
Malgorzata Rak ◽  
Paule Bénit ◽  
Dominique Chrétien ◽  
Juliette Bouchereau ◽  
Manuel Schiff ◽  
...  

Cytochrome oxidase defects are multiform diseases and despite major progress made in elucidating their molecular basis, we are still waiting for an efficient treatment. We discuss the cause of this discrepancy stressing the foremost questions that remain to be solved.


1994 ◽  
Vol 153 (2) ◽  
pp. 133-135 ◽  
Author(s):  
B. Chabrol ◽  
J. Mancini ◽  
D. Chretien ◽  
P. Rustin ◽  
A. Munnich ◽  
...  

2021 ◽  
Vol 296 ◽  
pp. 100485
Author(s):  
Natalie M. Garza ◽  
Aaron T. Griffin ◽  
Mohammad Zulkifli ◽  
Chenxi Qiu ◽  
Craig D. Kaplan ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document