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combined oxidative phosphorylation deficiency (COXPD)
Pathology:
- defects in mitochondrial oxidative phosphorylation generally result in severe multisystem disease
Related
electron transport
Specific
combined oxidative phosphorylation deficiency type 1 (COXPD1)
combined oxidative phosphorylation deficiency type 15 (COXPD15)
combined oxidative phosphorylation deficiency type 3 (COXPD3)
combined oxidative phosphorylation deficiency type 4 (COXPD4)
combined oxidative phosphorylation deficiency type 8 (COXPD8)
General
inborn error of metabolism
References
UniProt :accession P43897