Combined Oxidative Phosphorylation Deficiency 1

Also Known As:

COXPD1; Hepatoencephalopathy, Early Fatal Progressive

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

1.	Mitochondrial Diseases (Mitochondrial Disease)

1.	Cámara, Yolanda: 1 article (01/2022)
2.	Martí, Ramon: 1 article (01/2022)
3.	Molina-Berenguer, Miguel: 1 article (01/2022)
4.	Pérez-Ramos, Sandra: 1 article (01/2022)
5.	Salcedo-Allende, Maria Teresa: 1 article (01/2022)
6.	Torres-Torronteras, Javier: 1 article (01/2022)
7.	Vila-Julià, Ferran: 1 article (01/2022)

Drugs and Important Biological Agents (IBA) related to Combined Oxidative Phosphorylation Deficiency 1:

1.	Peptide Elongation Factors (Elongation Factor)IBA 01/01/2022 - "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (COXPD1) is a recessive mitochondrial translation disorder caused by mutations in GFM1, a nuclear gene encoding mitochondrial elongation factor G1 (EFG1). "