Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
R Kopajtich ◽  
T Haack ◽  
B Haberberger ◽  
J Mayr ◽  
W Sperl ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Respiratory Chain ◽  
Molecular Diagnosis ◽  
Mitochondrial Respiratory Chain ◽  
Respiratory Chain Deficiency ◽  
Mitochondrial Respiratory

scholarly journals Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders

2004 ◽  
Vol 1659 (2-3) ◽  
pp. 121-128 ◽  
Author(s):  
David R. Thorburn ◽  
Canny Sugiana ◽  
Renato Salemi ◽  
Denise M. Kirby ◽  
Lisa Worgan ◽  
...  
Keyword(s):  
Respiratory Chain ◽  
Molecular Diagnosis ◽  
Mitochondrial Respiratory Chain ◽  
Respiratory Chain Disorders ◽  
Mitochondrial Respiratory

Antenatal manifestations of mitochondrial respiratory chain deficiency

2003 ◽  
Vol 143 (2) ◽  
pp. 208-212 ◽  
Author(s):  
Jürgen-Christoph von Kleist-Retzow ◽  
Valérie Cormier-Daire ◽  
Géraldine Viot ◽  
Alice Goldenberg ◽  
Becky Mardach ◽  
...  
Keyword(s):  
Respiratory Chain ◽  
Mitochondrial Respiratory Chain ◽  
Respiratory Chain Deficiency ◽  
Mitochondrial Respiratory

Mitochondrial respiratory chain deficiency leads to overexpression of antioxidant enzymes

FEBS Letters ◽  
1997 ◽  
Vol 418 (3) ◽  
pp. 247-250 ◽  
Author(s):  
Liliana Brambilla ◽  
Gaetano Cairo ◽  
Piero Sestili ◽  
Valery O'Donnel ◽  
Angelo Azzi ◽  
...  
Keyword(s):  
Antioxidant Enzymes ◽  
Respiratory Chain ◽  
Mitochondrial Respiratory Chain ◽  
Respiratory Chain Deficiency ◽  
Mitochondrial Respiratory
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