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Last Updated: 10/31/2025
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Found 747 publications
Isolated cytochrome c oxidase deficiency as a cause of MELAS.
Journal: BMJ case reports
Published: August 08, 2025
Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.
Journal: American journal of human genetics
Published: March 04, 2025
Protein Nitration in Patients with Mitochondrial Diseases.
Journal: Antioxidants (Basel, Switzerland)
Published: December 17, 2024
Prenatal Counseling and Diagnosis of COX20 Gene-Related Mitochondrial Complex IV Deficiency: A Case Report and Literature Review.
Journal: International journal of women's health
Published: November 26, 2024
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Journal: Brain : a journal of neurology
Published: October 27, 2024
A Case of Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy in Taiwan: A 4-Year Follow-Up.
Journal: Case reports in medicine
Published: October 18, 2024
Tissue-specific adaptations to cytochrome c oxidase deficiency shape physiological outcomes.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: July 31, 2024
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.
Journal: Endocrine connections
Published: June 14, 2024
Last Updated: 10/31/2025