Cytochrome-c Oxidase Deficiency

Known as: Complex IV Deficiencies, Deficiencies, Cytochrome-c Oxidase, Cytochrome C Oxidase Deficiency 
A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations… (More)
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2009
Highly Cited
2009
Defects in mitochondrial translation are among the most common causes of mitochondrial disease, but the mechanisms that regulate… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2009
2009
Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal… (More)
  • table 1
  • figure 1
  • table 2
  • figure 2
  • figure 3
Is this relevant?
2006
2006
A retrospective, multicenter study of 180 children with cytochrome c oxidase (COX) deficiency analyzed the clinical features… (More)
  • table 1
  • table 2
  • table 3
Is this relevant?
Review
2001
Review
2001
Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain, catalyzing the transfer of electrons… (More)
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Cytochrome c oxidase (COX) defects are found in a clinically and genetically heterogeneous group of mitochondrial disorders. To… (More)
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Mutations in SCO2, a cytochrome c oxidase (COX) assembly gene located on chromosome 22, have recently been reported in patients… (More)
Is this relevant?
Highly Cited
1998
Highly Cited
1998
Leigh disease associated with cytochrome c oxidase deficiency (LD[COX-]) is one of the most common disorders of the mitochondrial… (More)
Is this relevant?
Review
1990
Review
1990
ABSTRACT: Cytochrome c oxidase (COX) is a complex enzyme composed of 13 subunits, three of which are encoded by the mitochondrial… (More)
  • table 1
  • figure 1
Is this relevant?
Highly Cited
1987
Highly Cited
1987
We studied 6 mitochondrial enzymes in crude extracts and isolated mitochondria from 5 children with pathologically proven… (More)
Is this relevant?
1987
1987
A 6-week-old boy had generalized weakness, requiring assisted ventilation, and lactic acidosis. At 6 months, the lactic acidosis… (More)
Is this relevant?